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: 3485_3487delCTG; Ala1162del

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: MSH6: 3485_3487delCTG; Ala1162del

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

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ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

The Journal Of Molecular Diagnostics : Jmd

Pritchard, Colin C CC; Smith, Christina C; Salipante, Stephen J SJ; Lee, Ming K MK; Thornton, Anne M AM; Nord, Alex S AS; Gulden, Cassandra C; Kupfer, Sonia S SS; Swisher, Elizabeth M EM; Bennett, Robin L RL; Novetsky, Akiva P AP; Jarvik, Gail P GP; Olopade, Olufunmilayo I OI; Goodfellow, Paul J PJ; King, Mary-Claire MC; Tait, Jonathan F JF; Walsh, Tom T

Publication Date: 2012-07

Variant appearance in text: MSH6: 3485_3487delCTG; A1162del

PubMed Link: 22658618

Variant Present in the following documents:

• Main text

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