Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L2312F
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ATM

NM_000051.4:p.L2312F

Associated Papers

Combination of mutations in genes controlling DNA repair and high mutational load plays a prognostic role in pancreatic ductal adenocarcinoma (PDAC): a retrospective real-life study in Sardinian population.

Sini MC et al.

Journal of Translational Medicine, 2024

38280995 (PubMed )
Supplement: 12967_2024_4923_MOESM1_ESM.pdf

A DNA Damage Response Gene Panel for Different Histologic Types of Epithelial Ovarian Carcinomas and Their Outcomes.

Chiang YC et al.

Biomedicines, 2021

34680501 (PubMed )
Supplement: biomedicines-09-01384-s001.zip › OV_NGS_Table_S1.pdf

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1
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