Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.A111V
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MITF

NM_000248.4:p.A111V

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

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

Van Marcke C et al.

Breast Cancer Research : Bcr, 2020

32295625 (PubMed )
Supplement: 13058_2020_1273_MOESM1_ESM.xlsx › Table_S2

Comprehensive analysis of syndromic hearing loss patients in Japan.

Ideura M et al.

Scientific Reports, 2019

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

Wang L et al.

Molecular Medicine Reports, 2018

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."