Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.D1496delFs
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ATM

NM_000051.4:p.D1496delFs

Associated Papers

A comprehensive analysis of BRCA2 gene: focus on mechanistic aspects of its functions, spectrum of deleterious mutations, and therapeutic strategies targeting BRCA2-deficient tumors.

Shailani A et al.

Medical Oncology (northwood, London, England), 2018

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F et al.

Biomed Research International, 2013

Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.

Håkansson S et al.

American Journal of Human Genetics, 1997

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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."