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: PALB2: E407A

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer.

Wellcome Open Research

Bleuyard, Jean-Yves JY; Butler, Rosie M RM; Esashi, Fumiko F

Publication Date: 2017

Variant appearance in text: PALB2: E407A

PubMed Link: 29387807

Variant Present in the following documents:

• Main text
• wellcomeopenres-2-14894.pdf

View BVdb publication page