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: ATM: 1914A>C; Lys638Asn; rs587781753

PubMed Link: 34253785

Variant Present in the following documents:

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

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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: ATM: 1914A>C; Lys638Asn

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Genetic analysis of uterine adenosarcomas and phyllodes tumors of the breast.

Molecular Oncology

Geyer, Felipe C FC; Burke, Kathleen A KA; Piscuoglio, Salvatore S; Ng, Charlotte K Y CKY; Papanastasiou, Anastasios D AD; Marchiò, Caterina C; Selenica, Pier P; Edelweiss, Marcia M; Murray, Melissa P MP; Brogi, Edi E; Soslow, Robert A RA; Rubin, Brian P BP; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2017-08

Variant appearance in text: ATM: Lys638Asn

PubMed Link: 28267263

Variant Present in the following documents:

• MOL2-11-913-s007.pdf

View BVdb publication page