Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.*420Y
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MITF

NM_000248.4:p.*420Y

Associated Papers

MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype.

Li W et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

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

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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."