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: 1726A>G; I576V

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Intracranial myxoid mesenchymal tumors with EWSR1-CREB family gene fusions: myxoid variant of angiomatoid fibrous histiocytoma or novel entity?

Brain Pathology (Zurich, Switzerland)

Bale, Tejus A TA; Oviedo, Angelica A; Kozakewich, Harry H; Giannini, Caterina C; Davineni, Phani K PK; Ligon, Keith K; Alexandrescu, Sanda S

Publication Date: 2018-03

Variant appearance in text: ATM: 1726A>G; I576V

PubMed Link: 28281318

Variant Present in the following documents:

• Main text

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