Publications:

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

Human Molecular Genetics

Grill, Christine C; Bergsteinsdóttir, Kristín K; Ogmundsdóttir, Margrét H MH; Pogenberg, Vivian V; Schepsky, Alexander A; Wilmanns, Matthias M; Pingault, Veronique V; Steingrímsson, Eiríkur E

Publication Date: 2013-11-01

Variant appearance in text: BRAF: L135V

PubMed Link: 23787126

Variant Present in the following documents:

• Main text

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Frequent mutations in the MITF pathway in melanoma.

Pigment Cell & Melanoma Research

Cronin, Julia C JC; Wunderlich, John J; Loftus, Stacie K SK; Prickett, Todd D TD; Wei, Xiaomu X; Ridd, Katie K; Vemula, Swapna S; Burrell, Allison S AS; Agrawal, Neena S NS; Lin, Jimmy C JC; Banister, Carolyn E CE; Buckhaults, Phillip P; Rosenberg, Steven A SA; Bastian, Boris C BC; Pavan, William J WJ; Samuels, Yardena Y

Publication Date: 2009-08

Variant appearance in text: BRAF: L135V

PubMed Link: 19422606

Variant Present in the following documents:

• Main text

View BVdb publication page