Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2116Splc
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ATM

NM_000051.4:p.S2116Splc

Associated Papers

Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.

Zhang C et al.

Journal of Medical Genetics, 2023

36627197 (PubMed )
Supplement: jmg-2022-108816supp001.pdf

A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Mucaki EJ et al.

Bmc Medical Genomics, 2016

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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."