Publications:

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

Scientific Reports

Norman, Chelsea S CS; O'Gorman, Luke L; Gibson, Jane J; Pengelly, Reuben J RJ; Baralle, Diana D; Ratnayaka, J Arjuna JA; Griffiths, Helen H; Rose-Zerilli, Matthew M; Ranger, Megan M; Bunyan, David D; Lee, Helena H; Page, Rhiannon R; Newall, Tutte T; Shawkat, Fatima F; Mattocks, Christopher C; Ward, Daniel D; Ennis, Sarah S; Self, Jay E JE

Publication Date: 2017-06-30

Variant appearance in text: TYR: R402T

PubMed Link: 28667292

Variant Present in the following documents:

• Main text
• 41598_2017_Article_4401.pdf

View BVdb publication page