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: 492A>C; Lys164Asn; rs765014361

PubMed Link: 34253785

Variant Present in the following documents:

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

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A case study of a long-term glioblastoma survivor with unmethylated MGMT and hypermutated genotype.

Cold Spring Harbor Molecular Case Studies

Jue, Toni Rose TR; Olafson, Lauren R LR; Siddell, Anna H AH; Rapkins, Robert W RW; Ng, Benedict B; Yin, Julia X M JXM; Lu, Victor M VM; Chung, Sylvia A SA; Whittaker, Shane P SP; Davies, Matthew M; Fairhall, Jacob M JM; Hovey, Elizabeth J EJ; McDonald, Kerrie L KL

Publication Date: 2019-06

Variant appearance in text: MLH1: 492A>C; Lys164Asn; rs765014361

PubMed Link: 31160353

Variant Present in the following documents:

• Main text
• MCS003251Jue.pdf

View BVdb publication page