Publications:

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: 1261delA

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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A rare large duplication of MLH1 identified in Lynch syndrome.

Hereditary Cancer In Clinical Practice

Kumar, Abhishek A; Paramasivam, Nagarajan N; Bandapalli, Obul Reddy OR; Schlesner, Matthias M; Chen, Tianhui T; Sijmons, Rolf R; Dymerska, Dagmara D; Golebiewska, Katarzyna K; Kuswik, Magdalena M; Lubinski, Jan J; Hemminki, Kari K; Försti, Asta A

Publication Date: 2021-01-19

Variant appearance in text: MLH1: 1261del; Ser421Valfs*70

PubMed Link: 33468175

Variant Present in the following documents:

• Main text
• 13053_2021_Article_167.pdf

View BVdb publication page