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Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

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Title: Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Authors: Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Kuwahara H; Computational Bioscience Research Center (CBRC), Computer, Electrical, and Mathematical Sciences and Engineering (CEMSE) Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Ewida N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Shamseldin HE; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alzahrani F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., AlSheddi T; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., AlObeid E; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alenazi M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alqahtani M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., AlAli M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al Ali H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Helaby R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abdulwahab F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hanna N; Département de génétique, AP-HP, Hôpital Bichat, Université de Paris, LVTS INSERM U1148, Paris, France., Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Derar N; Deparmtent of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsagheir A; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alhashem A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alsaleem B; Division of Pediatric Gastroenterology, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Alhebbi H; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Wali S; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Umarov R; Computational Bioscience Research Center (CBRC), Computer, Electrical, and Mathematical Sciences and Engineering (CEMSE) Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Gao X; Computational Bioscience Research Center (CBRC), Computer, Electrical, and Mathematical Sciences and Engineering (CEMSE) Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia. Xin.Gao@kaust.edu.sa., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.
Source: Genome biology [Genome Biol] 2020 Jun 17; Vol. 21 (1), pp. 145. Date of Electronic Publication: 2020 Jun 17.
Publication Type: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
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  Data: <searchLink fieldCode="AU" term="%22Maddirevula+S%22">Maddirevula S</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Kuwahara+H%22">Kuwahara H</searchLink>; Computational Bioscience Research Center (CBRC), Computer, Electrical, and Mathematical Sciences and Engineering (CEMSE) Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Ewida+N%22">Ewida N</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Shamseldin+HE%22">Shamseldin HE</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Patel+N%22">Patel N</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alzahrani+F%22">Alzahrani F</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22AlSheddi+T%22">AlSheddi T</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22AlObeid+E%22">AlObeid E</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alenazi+M%22">Alenazi M</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alsaif+HS%22">Alsaif HS</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alqahtani+M%22">Alqahtani M</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22AlAli+M%22">AlAli M</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Al+Ali+H%22">Al Ali H</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Helaby+R%22">Helaby R</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Ibrahim+N%22">Ibrahim N</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Abdulwahab+F%22">Abdulwahab F</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Hashem+M%22">Hashem M</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Hanna+N%22">Hanna N</searchLink>; Département de génétique, AP-HP, Hôpital Bichat, Université de Paris, LVTS INSERM U1148, Paris, France.<br /><searchLink fieldCode="AU" term="%22Monies+D%22">Monies D</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Derar+N%22">Derar N</searchLink>; Deparmtent of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alsagheir+A%22">Alsagheir A</searchLink>; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alhashem+A%22">Alhashem A</searchLink>; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alsaleem+B%22">Alsaleem B</searchLink>; Division of Pediatric Gastroenterology, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alhebbi+H%22">Alhebbi H</searchLink>; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Wali+S%22">Wali S</searchLink>; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Umarov+R%22">Umarov R</searchLink>; Computational Bioscience Research Center (CBRC), Computer, Electrical, and Mathematical Sciences and Engineering (CEMSE) Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Gao+X%22">Gao X</searchLink>; Computational Bioscience Research Center (CBRC), Computer, Electrical, and Mathematical Sciences and Engineering (CEMSE) Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia. Xin.Gao@kaust.edu.sa.<br /><searchLink fieldCode="AU" term="%22Alkuraya+FS%22">Alkuraya FS</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.
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  Data: <searchLink fieldCode="JN" term="%22100960660%22">Genome biology</searchLink> [Genome Biol] 2020 Jun 17; Vol. 21 (1), pp. 145. <i>Date of Electronic Publication: </i>2020 Jun 17.
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