Publications:

BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance.

Nature Communications

Wang, Yifan Y; Bernhardy, Andrea J AJ; Nacson, Joseph J; Krais, John J JJ; Tan, Yin-Fei YF; Nicolas, Emmanuelle E; Radke, Marc R MR; Handorf, Elizabeth E; Llop-Guevara, Alba A; Balmaña, Judith J; Swisher, Elizabeth M EM; Serra, Violeta V; Peri, Suraj S; Johnson, Neil N

Publication Date: 2019-12-11

Variant appearance in text: MLH1: 2168C>A; A723D

PubMed Link: 31827092

Variant Present in the following documents:

• 41467_2019_13530_MOESM4_ESM.xlsx, sheet 1

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Systematic review and meta-analysis of candidate gene association studies of lower urinary tract symptoms in men.

European Urology

Cartwright, Rufus R; Mangera, Altaf A; Tikkinen, Kari A O KA; Rajan, Prabhakar P; Pesonen, Jori J; Kirby, Anna C AC; Thiagamoorthy, Ganesh G; Ambrose, Chris C; Gonzalez-Maffe, Juan J; Bennett, Phillip R PR; Palmer, Tom T; Walley, Andrew A; Järvelin, Marjo-Riitta MR; Khullar, Vik V; Chapple, Chris C

Publication Date: 2014-10

Variant appearance in text: MLH1: Ala723Asp

PubMed Link: 24491308

Variant Present in the following documents:

• Main text

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Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.

Oncology Letters

Zhu, Ming M; Chen, Hui-Mei HM; Wang, Ya-Ping YP

Publication Date: 2013-05

Variant appearance in text: MLH1: 2168C>A; Ala723Asp

PubMed Link: 23760103

Variant Present in the following documents:

• Main text
• ol-05-05-1710.pdf

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