Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Y1529*
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ATM

NM_000051.4:p.Y1529*

Associated Papers

Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD?

Schubart C et al.

International Journal of Cancer, 2025

40278800 (PubMed )
Supplement: IJC-157-964-s002.xlsx › Tabelle1

Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center.

Tögel L et al.

Cancers, 2023

38136436 (PubMed )
Supplement: cancers-15-05892-s001.zip › Supplementary_Tables.xlsx › Table_S2

Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

Nassar AH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31844177 (PubMed )
Supplement: 41436_2019_720_MOESM4_ESM.xlsx › S1.2_Pathogenic_variants

Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

Soukupova J et al.

Neuromolecular Medicine, 2011

Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing.

Heinrich T et al.

European Journal of Pediatrics, 2006

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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."