Varaico: Literature-Extracted Genetic Variants

Gene:MOCS1
Variant:p.R112Q
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MOCS1

NM_001358530.2:p.R112Q

Associated Papers

Homozygous GRHPR C.494G>A mutation is deleterious that causes early onset of nephrolithiasis in West Bengal, India.

Chatterjee A et al.

Frontiers in Molecular Biosciences, 2022

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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."