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: 1153_1155delAGG; Arg385del

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.

Cancers

Dámaso, Estela E; González-Acosta, Maribel M; Vargas-Parra, Gardenia G; Navarro, Matilde M; Balmaña, Judith J; Ramon Y Cajal, Teresa T; Tuset, Noemí N; Thompson, Bryony A BA; Marín, Fátima F; Fernández, Anna A; Gómez, Carolina C; Velasco, Àngela À; Solanes, Ares A; Iglesias, Sílvia S; Urgel, Gisela G; López, Consol C; Del Valle, Jesús J; Campos, Olga O; Santacana, Maria M; Matias-Guiu, Xavier X; Lázaro, Conxi C; Valle, Laura L; Brunet, Joan J; Pineda, Marta M; Capellá, Gabriel G

Publication Date: 2020-07-05

Variant appearance in text: MSH6: 1153_1155delAGG; Arg385del

PubMed Link: 32635641

Variant Present in the following documents:

• Main text
• cancers-12-01799.pdf

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High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

Journal Of Medical Genetics

González-Acosta, Maribel M; Marín, Fátima F; Puliafito, Benjamin B; Bonifaci, Nuria N; Fernández, Anna A; Navarro, Matilde M; Salvador, Hector H; Balaguer, Francesc F; Iglesias, Silvia S; Velasco, Angela A; Grau Garces, Elia E; Moreno, Victor V; Gonzalez-Granado, Luis Ignacio LI; Guerra-García, Pilar P; Ayala, Rosa R; Florkin, Benoît B; Kratz, Christian C; Ripperger, Tim T; Rosenbaum, Thorsten T; Januszkiewicz-Lewandowska, Danuta D; Azizi, Amedeo A AA; Ragab, Iman I; Nathrath, Michaela M; Pander, Hans-Jürgen HJ; Lobitz, Stephan S; Suerink, Manon M; Dahan, Karin K; Imschweiler, Thomas T; Demirsoy, Ugur U; Brunet, Joan J; Lázaro, Conxi C; Rueda, Daniel D; Wimmer, Katharina K; Capellá, Gabriel G; Pineda, Marta M

Publication Date: 2020-04

Variant appearance in text: MSH6: 1153_1155del; Arg385del

PubMed Link: 31494577

Variant Present in the following documents:

• jmedgenet-2019-106272supp001.xlsx, sheet 3

View BVdb publication page