Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.V245I
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ATM

NM_000051.4:p.V245I

Associated Papers

Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.

Jansche R et al.

Cell Death & Disease, 2026

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.

Li N et al.

Npj Breast Cancer, 2021

34117267 (PubMed )
Supplement: 41523_2021_279_MOESM2_ESM.xlsx › Supp._Table_4b_Recurrent_MS

Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Li Z et al.

Clinical and Translational Medicine, 2020

33252848 (PubMed )
Supplement: CTM2-10-e222-s003.xlsx › Sheet1

Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants.

Bernstein-Molho R et al.

Breast Cancer Research and Treatment, 2020

Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.

Jiang L et al.

American Journal of Cancer Research, 2020

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

Yu H et al.

The Journal of Allergy and Clinical Immunology, 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."