Publications:

Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer

Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ

Publication Date: 2020

Variant appearance in text: BRCA2: 2857G>T; Glu953X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

American Journal Of Ophthalmology

Lee, Kristy K; Berg, Jonathan S JS; Milko, Laura L; Crooks, Kristy K; Lu, Mei M; Bizon, Chris C; Owen, Phillips P; Wilhelmsen, Kirk C KC; Weck, Karen E KE; Evans, James P JP; Garg, Seema S

Publication Date: 2015-08

Variant appearance in text: BRCA2: 2857G>T

PubMed Link: 25910913

Variant Present in the following documents:

• Main text

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