Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.Q75fs
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KARS1

NM_005548.3:p.Q75fs

Associated Papers

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.

Cappuccio G et al.

Human Mutation, 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."