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Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani Families.

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Title: Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani Families.
Authors: Ullah S; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Khan SA; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan.; Department of Computer Science and Bioinformatics, Khushal Khan Khatak University, Karak, Pakistan., Jan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Din SU; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Rehman ZU; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Jan A; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Tariq M; Department of Medical Laboratory Technology, University College of Duba, University of Tabuk, Tabuk, Kingdom of Saudi Arabia., Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Ghani A; Department of Chemistry, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan., Wasif N; Institute of Human Genetics, Ulm University and Ulm University Medical Center, 89081, Ulm, Germany. naveedwasif@gmail.com.; Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany. naveedwasif@gmail.com., Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan. saad@kust.edu.pk.
Source: Biochemical genetics [Biochem Genet] 2026 Feb; Vol. 64 (1), pp. 1311-1323. Date of Electronic Publication: 2025 Mar 19.
Publication Type: Journal Article
Journal Info: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0126611 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4927 (Electronic) Linking ISSN: 00062928 NLM ISO Abbreviation: Biochem Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani Families.
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  Data: <searchLink fieldCode="AU" term="%22Ullah+S%22">Ullah S</searchLink>; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan.<br /><searchLink fieldCode="AU" term="%22Khan+SA%22">Khan SA</searchLink>; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan.; Department of Computer Science and Bioinformatics, Khushal Khan Khatak University, Karak, Pakistan.<br /><searchLink fieldCode="AU" term="%22Jan+S%22">Jan S</searchLink>; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan.<br /><searchLink fieldCode="AU" term="%22Din+SU%22">Din SU</searchLink>; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan.<br /><searchLink fieldCode="AU" term="%22Muhammad+N%22">Muhammad N</searchLink>; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan.<br /><searchLink fieldCode="AU" term="%22Rehman+ZU%22">Rehman ZU</searchLink>; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan.<br /><searchLink fieldCode="AU" term="%22Jan+A%22">Jan A</searchLink>; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan.<br /><searchLink fieldCode="AU" term="%22Tariq+M%22">Tariq M</searchLink>; Department of Medical Laboratory Technology, University College of Duba, University of Tabuk, Tabuk, Kingdom of Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Muhammad+N%22">Muhammad N</searchLink>; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan.<br /><searchLink fieldCode="AU" term="%22Ghani+A%22">Ghani A</searchLink>; Department of Chemistry, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan.<br /><searchLink fieldCode="AU" term="%22Wasif+N%22">Wasif N</searchLink>; Institute of Human Genetics, Ulm University and Ulm University Medical Center, 89081, Ulm, Germany. naveedwasif@gmail.com.; Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany. naveedwasif@gmail.com.<br /><searchLink fieldCode="AU" term="%22Khan+S%22">Khan S</searchLink>; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Khyber Pakhtunkhwa, Kohat, Pakistan. saad@kust.edu.pk.
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  Data: <searchLink fieldCode="JN" term="%220126611%22">Biochemical genetics</searchLink> [Biochem Genet] 2026 Feb; Vol. 64 (1), pp. 1311-1323. <i>Date of Electronic Publication: </i>2025 Mar 19.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Kluwer+Academic%2FPlenum+Publishers%22">Kluwer Academic/Plenum Publishers </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0126611 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-4927 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200062928%22">00062928 </searchLink><i>NLM ISO Abbreviation: </i>Biochem Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s10528-025-11087-2
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              Text: 2026 Feb
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