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: 766_767delAG; Ser256Terfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer.

Cancer

Kim, Soyoun Rachel SR; Tone, Alicia A; Kim, Raymond H RH; Cesari, Matthew M; Clarke, Blaise A BA; Eiriksson, Lua L; Hart, Tae T; Aronson, Melyssa M; Holter, Spring S; Lytwyn, Alice A; Maganti, Manjula M; Oldfield, Leslie L; Gallinger, Steven S; Bernardini, Marcus Q MQ; Oza, Amit M AM; Djordjevic, Bojana B; Lerner-Ellis, Jordan J; Van de Laar, Emily E; Vicus, Danielle D; Pugh, Trevor J TJ; Pollett, Aaron A; Ferguson, Sarah E SE

Publication Date: 2020-11-15

Variant appearance in text: MSH6: 766_767delAG

PubMed Link: 32809219

Variant Present in the following documents:

• Main text
• CNCR-126-4886.pdf

View BVdb publication page