Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.R217Q
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MITF

NM_001354604.2:p.R217Q

Associated Papers

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.

Ma J et al.

Human Genomics, 2023

36597107 (PubMed )
Supplement: 40246_2022_449_MOESM3_ESM.xlsx › Sheet1

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

Wang J et al.

Molecular Genetics & Genomic Medicine, 2021

Identification of MC1R SNPs and their Association with Plumage Colors in Asian Duck.

Sultana H et al.

The Journal of Poultry Science, 2017

The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.

Oetting WS

Pigment Cell Research, 2000

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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."