Varaico: Literature-Extracted Genetic Variants

Gene:CARS1
Variant:p.R370W
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CARS1

NM_001751.6:p.R370W

Associated Papers

Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype.

Del Greco C et al.

Molecular Genetics & Genomic Medicine, 2025

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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."