Publications:

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology

Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X

Publication Date: 2021-03-10

Variant appearance in text: BRCA2: R2625R

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

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Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

Plos Genetics

Fraile-Bethencourt, Eugenia E; Díez-Gómez, Beatriz B; Velásquez-Zapata, Valeria V; Acedo, Alberto A; Sanz, David J DJ; Velasco, Eladio A EA

Publication Date: 2017-03

Variant appearance in text: BRCA2: 7875A>G

PubMed Link: 28339459

Variant Present in the following documents:

• Main text
• pgen.1006691.pdf
• pgen.1006691.s003.pdf

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Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.

Bmc Cancer

Durocher, Francine F; Labrie, Yvan Y; Soucy, Penny P; Sinilnikova, Olga O; Labuda, Damian D; Bessette, Paul P; Chiquette, Jocelyne J; Laframboise, Rachel R; Lépine, Jean J; Lespérance, Bernard B; Ouellette, Geneviève G; Pichette, Roxane R; Plante, Marie M; Tavtigian, Sean V SV; Simard, Jacques J

Publication Date: 2006-09-29

Variant appearance in text: BRCA2: 7875A>G

PubMed Link: 17010193

Variant Present in the following documents:

• Main text
• 1471-2407-6-230.pdf

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