Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.R420R
Back to variants list

MITF

NM_001354604.2:p.R420R

Associated Papers

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.

Li W et al.

Neural Plasticity, 2019

30936914 (PubMed )
Supplement: 7143458.f3.pdf

Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.

Sun J et al.

Journal of Human Genetics, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."