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: 156delA; Glu53Argfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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A cancer vaccine approach for personalized treatment of Lynch Syndrome.

Scientific Reports

Majumder, Snigdha S; Shah, Rakshit R; Elias, Jisha J; Manoharan, Malini M; Shah, Priyanka P; Kumari, Anjali A; Chakraborty, Papia P; Kode, Vasumathi V; Mistry, Yogesh Y; Coral, Karunakaran K; Mittal, Bharti B; Sm, Sakthivel Murugan SM; Mahadevan, Lakshmi L; Gupta, Ravi R; Chaudhuri, Amitabha A; Khanna-Gupta, Arati A

Publication Date: 2018-08-14

Variant appearance in text: MLH1: 154delA

PubMed Link: 30108227

Variant Present in the following documents:

• Main text
• 41598_2018_Article_30466.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MLH1: 156delA; Glu53Argfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page