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: 31delC; L11fs; rs63749816

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Novel MLH1 frameshift mutation in an extended hereditary nonpolyposis colorectal cancer family.

World Journal Of Gastroenterology

Kadiyska, Tanya-Kirilova TK; Kaneva, Radka-Petrova RP; Nedin, Dimitar-Georgiev DG; Alexandrova, Alexandrina-Borisova AB; Gegova, Antonina-Todorova AT; Lalchev, Stoyan-Ganchev SG; Christova, Tatyana T; Mitev, Vanio-Ivanov VI; Horst, Juergen J; Bogdanova, Nadja N; Kremensky, Ivo-Marinov IM

Publication Date: 2006-12-28

Variant appearance in text: MLH1: 31delC

PubMed Link: 17203532

Variant Present in the following documents:

• Main text

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