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: 3332T>C; Leu1111Pro

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Infrequent occurrence of TET1, TET3, and ASXL2 mutations in myelodysplastic/myeloproliferative neoplasms.

Blood Cancer Journal

Lasho, Terra L TL; Vallapureddy, Rangit R; Finke, Christy M CM; Mangaonkar, Abhishek A; Gangat, Naseema N; Ketterling, Rhett R; Tefferi, Ayalew A; Patnaik, Mrinal M MM

Publication Date: 2018-03-12

Variant appearance in text: ATM: L1111P

PubMed Link: 29531217

Variant Present in the following documents:

• Main text

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