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: 1435G>T; Asp479Tyr

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression.

Haematologica

Guarini, Anna A; Marinelli, Marilisa M; Tavolaro, Simona S; Bellacchio, Emanuele E; Magliozzi, Monia M; Chiaretti, Sabina S; De Propris, Maria Stefania MS; Peragine, Nadia N; Santangelo, Simona S; Paoloni, Francesca F; Nanni, Mauro M; Del Giudice, Ilaria I; Mauro, Francesca Romana FR; Torrente, Isabella I; Foà, Robin R

Publication Date: 2012-01

Variant appearance in text: ATM: D479Y

PubMed Link: 21993670

Variant Present in the following documents:

• Main text

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