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: MSH6: 2061T>G; Cys687Trp

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.

Neuro-Oncology Advances

Guerrini-Rousseau, Léa L; Varlet, Pascale P; Colas, Chrystelle C; Andreiuolo, Felipe F; Bourdeaut, Franck F; Dahan, Karin K; Devalck, Christine C; Faure-Conter, Cécile C; Genuardi, Maurizio M; Goldberg, Yael Y; Kuhlen, Michaela M; Moalla, Salma S; Opocher, Enrico E; Perez-Alonso, Vanessa V; Sehested, Astrid A; Slavc, Irene I; Unger, Sheila S; Wimmer, Katharina K; Grill, Jacques J; Brugières, Laurence L

Publication Date: 2019

Variant appearance in text: MSH6: 2061T>G; Cys687Trp

PubMed Link: 32642664

Variant Present in the following documents:

• Main text
• vdz033.pdf

View BVdb publication page