Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L1824P
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ATM

NM_000051.4:p.L1824P

Associated Papers

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

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.

Nanetti L et al.

Orphanet Journal of Rare Diseases, 2013

ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.

Cavalieri S et al.

Human Mutation, 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."