Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.D7G
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ATM

NM_000051.4:p.D7G

Associated Papers

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1

Absence of somatic ATM missense mutations in 58 mammary carcinomas.

Feng J et al.

Cancer Genetics and Cytogenetics, 2003

Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls.

Sommer SS et al.

Cancer Genetics and Cytogenetics, 2002

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Fahsold R et al.

American Journal of Human Genetics, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."