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: 1067C>T; Ser356Phe; rs749334262

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: MLH1: 1067C>T; Ser356Phe

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

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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: 1067C>T; Ser356Phe

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours.

Human Molecular Genetics

Velho, Sérgia S; Oliveira, Carla C; Paredes, Joana J; Sousa, Sónia S; Leite, Marina M; Matos, Paulo P; Milanezi, Fernanda F; Ribeiro, Ana Sofia AS; Mendes, Nuno N; Licastro, Danilo D; Karhu, Auli A; Oliveira, Maria José MJ; Ligtenberg, Marjolijn M; Hamelin, Richard R; Carneiro, Fátima F; Lindblom, Annika A; Peltomaki, Paivi P; Castedo, Sérgio S; Schwartz, Simó S; Jordan, Peter P; Aaltonen, Lauri A LA; Hofstra, Robert M W RM; Suriano, Gianpaolo G; Stupka, Elia E; Fialho, Arsenio M AM; Seruca, Raquel R

Publication Date: 2010-02-15

Variant appearance in text: MLH1: 1067C>T

PubMed Link: 19955118

Variant Present in the following documents:

• Main text

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