Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q1017*
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ATM

NM_000051.4:p.Q1017*

Associated Papers

A framework for individualized splice-switching oligonucleotide therapy.

Kim J et al.

Nature, 2023

37438524 (PubMed )
Supplement: 41586_2023_6277_MOESM4_ESM.xlsx › S_Table_1

Clinical, pathological, and comprehensive molecular analysis of the uterine clear cell carcinoma: a retrospective national study from TMRG and GINECO network.

Nigon E et al.

Journal of Translational Medicine, 2023

37353806 (PubMed )
Supplement: 12967_2023_4264_MOESM5_ESM.xlsx › Feuil1

Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.

Fan X et al.

Jnci Cancer Spectrum, 2021

34377931 (PubMed )
Supplement: pkab044_supplementary_data.pdf

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Moeini Shad T et al.

Frontiers in Immunology, 2021

Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.

Gardner SA et al.

Hereditary Cancer in Clinical Practice, 2018

29308099 (PubMed )
Supplement: 13053_2017_83_MOESM1_ESM.xlsx › Sheet1
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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."