Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.
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| Title: | Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes. |
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| Authors: | Meyer AP; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA., Forrest ME; Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, Michigan, USA., Nicolau S; The Center for Gene Therapy, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA., Wiszniewski W; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA., Bland MP; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA., Tsao CY; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Child Neurology, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Neurology, The Ohio State University College of Medicine, Columbus, Ohio, USA., Antonellis A; Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, Michigan, USA.; Department of Neurology, University of Michigan School of Medicine, Ann Arbor, Michigan, USA., Abreu NJ; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; The Center for Gene Therapy, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.; Division of Child Neurology, Nationwide Children's Hospital, Columbus, Ohio, USA. |
| Source: | Human mutation [Hum Mutat] 2022 Jul; Vol. 43 (7), pp. 869-876. Date of Electronic Publication: 2022 Apr 21. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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