Varaico: Literature-Extracted Genetic Variants

Gene:KARS1
Variant:p.R505C
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KARS1

NM_001130089.2:p.R505C

Associated Papers

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

Cope H et al.

Molecular Genetics & Genomic Medicine, 2020

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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."