Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.C562Y
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KARS1

NM_001130089.2:p.C562Y

Associated Papers

Expansion of the phenotypic spectrum of KARS1-related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation.

Bejma TA et al.

American Journal of Medical Genetics. Part A, 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."