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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MITF

Variant:p.V112G

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MITF

NM_001354604.2:p.V112G

hg38:chr3:69879364 T>G

Associated Papers

A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.

Li S et al.

Bmc Medical Genomics, 2022

36329483 (PubMed )

Supplement: 12920_2022_1379_MOESM4_ESM.pdf

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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."