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: HNPCC1: Q130V

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MSH2: Q130V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.

Frontiers In Oncology

Dominguez-Valentin, Mev M; Wernhoff, Patrik P; Cajal, Andrea R AR; Kalfayan, Pablo G PG; Piñero, Tamara A TA; Gonzalez, Maria L ML; Ferro, Alejandra A; Sammartino, Ines I; Causada Calo, Natalia S NS; Vaccaro, Carlos A CA

Publication Date: 2016

Variant appearance in text: MSH2: Q130V

PubMed Link: 27606285

Variant Present in the following documents:

• Main text
• fonc-06-00189.pdf

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