Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.R256C
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KARS1

NM_001130089.2:p.R256C

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

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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."