Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K792K
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ATM

NM_000051.4:p.K792K

Associated Papers

Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.

Han SH et al.

European Urology Open Science, 2024

38496821 (PubMed )
Supplement: mmc2.xlsx › Table_S13

Thyroid carcinoma in two patients with ataxia-telangiectasia: Tailored diagnostic and therapeutic use of radioiodine.

Rivalta B et al.

Pediatric Blood & Cancer, 2023

Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.

Han S et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36712083 (PubMed )
Supplement: media-1.xlsx › eTable.12

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Yamamoto K et al.

Elife, 2016

27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

A novel approach to describe a U1 snRNA binding site.

Freund M et al.

Nucleic Acids Research, 2003

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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."