Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.H2111R
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ATM

NM_000051.4:p.H2111R

Associated Papers

Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.

Saunders EJ et al.

European Urology Oncology, 2024

38458890 (PubMed )
Supplement: NIHMS2085376-supplement-Supplementary_Tables.xlsx › Supp_Table_3

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze A et al.

Jama Oncology, 2024

38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_4

ATM missense mutations are frequent in patients with breast cancer.

Sommer SS et al.

Cancer Genetics and Cytogenetics, 2003

Aberrant splicing of the ATM gene associated with shortening of the intronic mononucleotide tract in human colon tumor cell lines: a novel mutation target of microsatellite instability.

Ejima Y et al.

International Journal of Cancer, 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."