Publications:

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass

Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J

Publication Date: 2023-03

Variant appearance in text: MLH1: 346dupA; rs267607739

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MLH1: 346dupA; Thr116Asnfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.

European Journal Of Human Genetics : Ejhg

Giunti, Laura L; Cetica, Valentina V; Ricci, Ugo U; Giglio, Sabrina S; Sardi, Iacopo I; Paglierani, Milena M; Andreucci, Elena E; Sanzo, Massimiliano M; Forni, Marco M; Buccoliero, Anna Maria AM; Genitori, Lorenzo L; Genuardi, Maurizio M

Publication Date: 2009-07

Variant appearance in text: MLH1: 346_347insA

PubMed Link: 19156169

Variant Present in the following documents:

• Main text

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