Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.R324K
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MITF

NM_001354604.2:p.R324K

Associated Papers

Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand.

Damrongchietanon T et al.

Scientific Reports, 2025

Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.

Wang J et al.

Molecular Genetics & Genomic Medicine, 2021

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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."