Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.T358M
Back to variants list

KARS1

NM_001130089.2:p.T358M

Associated Papers

Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.

Domínguez-Ruiz M et al.

Genes, 2024

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.

Lin SJ et al.

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."