Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.R56L
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MITF

NM_001354604.2:p.R56L

Associated Papers

A cascade of genes related to Waardenburg syndrome.

Tachibana M

The Journal of Investigative Dermatology. Symposium Proceedings, 1999

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

Carey ML et al.

Journal of Medical Genetics, 1998

The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).

Morell R et al.

Journal of Medical Genetics, 1997

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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."