Publications:

Accurate classification of BRCA1 variants with saturation genome editing.

Nature

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J

Publication Date: 2018-10

Variant appearance in text: BRCA1: 252A>G; E84=

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

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Constitutional CHEK2 mutations are infrequent in early-onset and familial breast/ovarian cancer patients from Pakistan.

Bmc Cancer

Rashid, Muhammad U MU; Muhammad, Noor N; Faisal, Saima S; Amin, Asim A; Hamann, Ute U

Publication Date: 2013-06-27

Variant appearance in text: BRCA1: E84E

PubMed Link: 23806170

Variant Present in the following documents:

• Main text
• 1471-2407-13-312.pdf

View BVdb publication page