Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R1150fs
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ATM

NM_000051.4:p.R1150fs

Associated Papers

Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.

Espinel W et al.

Cancers, 2022

35626031 (PubMed )
Supplement: cancers-14-02426-s001.zip › cancers-1700686-supplementary.pdf

Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report.

Koeller DR et al.

The American Journal of Case Reports, 2020

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