Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.G123R
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MPZ

NM_000530.8:p.G123R

Associated Papers

Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.

Gaviria-Sabogal CC et al.

Human Molecular Genetics, 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."