Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L262*
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ATM

NM_000051.4:p.L262*

Associated Papers

Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.

Cheo SW et al.

Esmo Open, 2025

40068381 (PubMed )
Supplement: mmc1.xlsx › All_positive

Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.

Abdel-Wahab R et al.

Scientific Reports, 2020

33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1

Using next-generation sequencing (NGS) platform to diagnose pathogenic germline BRCA1/2 mutations from archival tumor specimens.

Ong PY et al.

Gynecologic Oncology, 2019

Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.

Chan GHJ et al.

Oncotarget, 2018

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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."