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: 739T>G; Ser247Ala; rs63750948

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

Plos One

Offer, Steven M SM; Pan-Hammarström, Qiang Q; Hammarström, Lennart L; Harris, Reuben S RS

Publication Date: 2010-08-18

Variant appearance in text: MLH1: S247A

PubMed Link: 20805886

Variant Present in the following documents:

• Main text
• pone.0012260.pdf

View BVdb publication page