Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.R216K
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MITF

NM_000248.4:p.R216K

Associated Papers

Fragment-based discovery enables direct targeting of the melanoma oncogene MITF.

Castelletti D et al.

Nature Communications, 2025

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.

Zardadi S et al.

Bmc Pediatrics, 2021

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

Yang S et al.

Plos One, 2013

Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.

Zhang H et al.

Febs Letters, 2012

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

Léger S et al.

European Journal of Human Genetics : Ejhg, 2012

A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle.

Philipp U et al.

Plos One, 2011

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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."