Varaico: Literature-Extracted Genetic Variants

Gene:AARS1
Variant:p.R329C
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AARS1

NM_001605.3:p.R329C

Associated Papers

A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.

Meyer-Schuman R et al.

Human Molecular Genetics, 2023

Expanded phenotype of AARS1-related white matter disease.

Helman G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."