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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.
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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  Data: Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.
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  Data: <searchLink fieldCode="AU" term="%22Meyer+AP%22">Meyer AP</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Forrest+ME%22">Forrest ME</searchLink>; Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, Michigan, USA.<br /><searchLink fieldCode="AU" term="%22Nicolau+S%22">Nicolau S</searchLink>; The Center for Gene Therapy, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Wiszniewski+W%22">Wiszniewski W</searchLink>; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA.<br /><searchLink fieldCode="AU" term="%22Bland+MP%22">Bland MP</searchLink>; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA.<br /><searchLink fieldCode="AU" term="%22Tsao+CY%22">Tsao CY</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Antonellis+A%22">Antonellis A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Abreu+NJ%22">Abreu NJ</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2022 Jul; Vol. 43 (7), pp. 869-876. <i>Date of Electronic Publication: </i>2022 Apr 21.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
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        Value: 10.1002/humu.24372
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        Text: English
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      – TitleFull: Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.
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              Text: 2022 Jul
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