Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E672Q
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ATM

NM_000051.4:p.E672Q

Associated Papers

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM1_ESM.docx

Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Zimmermann MT et al.

Frontiers in Oncology, 2021

PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.

Kluska A et al.

Bmc Medical Genomics, 2017

Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.

Stafford JL et al.

Plos One, 2017

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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."