Possible Founder Effect of Glycine Encephalopathy: Evidence of a GLDC c.2714T>G (p.Val905Gly) Common Variant in the Paisa Community Based in Cali, Colombia.
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| Title: | Possible Founder Effect of Glycine Encephalopathy: Evidence of a GLDC c.2714T>G (p.Val905Gly) Common Variant in the Paisa Community Based in Cali, Colombia. |
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| Authors: | Sinisterra-Diaz SE; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia.; Genetics Service, Fundación Valle del Lili, Cali, Colombia., Prada CE; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, USA., Pachajoa H; Genetics Service, Fundación Valle del Lili, Cali, Colombia.; Facultad de Ciencias de la Salud, Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2025 Dec; Vol. 197 (12), pp. e64173. Date of Electronic Publication: 2025 Jul 27. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.64173 |
