Publications:

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: MSH6: 3744_3773del; His1248_Ser1257del

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS5.xlsx, sheet 2
• LSA-2021-01319_TableS3.xlsx, sheet 1

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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: MSH6: 3744_3773del; His1248_Ser1257del

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.pdf

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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: 3744_3773del; His1248_Ser1257del

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer.

Scientific Reports

Dedeurwaerdere, Franceska F; Claes, Kathleen Bm KB; Van Dorpe, Jo J; Rottiers, Isabelle I; Van der Meulen, Joni J; Breyne, Joke J; Swaerts, Koen K; Martens, Geert G

Publication Date: 2021-06-18

Variant appearance in text: MSH6: 3744_3773del

PubMed Link: 34145315

Variant Present in the following documents:

• Main text
• 41598_2021_Article_91974.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: MSH6: 3744_3773del; His1248_Ser1257del

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page