RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome.
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| Title: | RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome. |
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| Authors: | Villate O; Pediatric Oncology Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain., Maortua H; Neurodegenerative Diseases Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Genetics Service, Hospital Universitario Cruces-Osakidetza, Barakaldo, Spain., Tejada MI; Genetics Service, Hospital Universitario Cruces-Osakidetza, Barakaldo, Spain.; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Spanish Consortium for Research on Rare Diseases (CIBERER), Madrid, Spain., Llano-Rivas I; Genetics Service, Hospital Universitario Cruces-Osakidetza, Barakaldo, Spain. |
| Source: | Frontiers in pediatrics [Front Pediatr] 2022 Feb 02; Vol. 10, pp. 827802. Date of Electronic Publication: 2022 Feb 02 (Print Publication: 2022). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 2296-2360 |
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| DOI: | 10.3389/fped.2022.827802 |
