Pathogenic missense variants altering codon 336 of <i>GARS1</i> lead to divergent dominant phenotypes-Reference-Cited by-同舟云学术

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes

Published:2022-04-21 Issue:7 Volume:43 Page:869-876
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Meyer Alayne P.¹²^ORCID,Forrest Megan E.³,Nicolau Stefan⁴,Wiszniewski Wojciech⁵,Bland Mary Pat⁵,Tsao Chang‐Yong²⁶⁷,Antonellis Anthony³⁸^ORCID,Abreu Nicolas J.²⁴⁶

Affiliation:

1. Division of Genetic and Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA

2. Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA

3. Department of Human Genetics University of Michigan School of Medicine Ann Arbor Michigan USA

4. The Center for Gene Therapy, Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USA

5. Department of Molecular and Medical Genetics Oregon Health and Science University Portland Oregon USA

6. Division of Child Neurology Nationwide Children's Hospital Columbus Ohio USA

7. Department of Neurology The Ohio State University College of Medicine Columbus Ohio USA

8. Department of Neurology University of Michigan School of Medicine Ann Arbor Michigan USA

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24372

Reference25 articles.

1. Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

2. Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons

3. Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V

4. Amino Acid Changes in Disease-Associated Variants Differ Radically from Variants Observed in the 1000 Genomes Project Dataset

5. Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation

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