Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.E213delFs
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MITF

NM_000248.4:p.E213delFs

Associated Papers

A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.

Yang S et al.

Molecular Genetics & Genomic Medicine, 2020

Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

Yang S et al.

Plos One, 2013

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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."