Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.R581Q
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KARS1

NM_001130089.2:p.R581Q

Associated Papers

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

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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."