Publications:

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: OCA2: 1393A>G; N465D

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

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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: OCA2: 1393A>G

PubMed Link: 28667292

Variant Present in the following documents:

• Main text
• 41598_2017_Article_4401.pdf

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