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: 2203C>A; Leu735Ile; rs786204071

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer.

Plos One

Singh, Ashish Kumar AK; Talseth-Palmer, Bente B; McPhillips, Mary M; Lavik, Liss Anne Solberg LAS; Xavier, Alexandre A; Drabløs, Finn F; Sjursen, Wenche W

Publication Date: 2020

Variant appearance in text: MSH6: 2203C>A; Leu735Ile; rs786204071

PubMed Link: 32634176

Variant Present in the following documents:

• Main text
• pone.0235613.pdf
• pone.0235613.s008.xlsx, sheet 1

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: MSH6: L735I; rs786204071

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 7
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 2
• pcbi.1007453.s004.xlsx, sheet 6

View BVdb publication page