Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K2670_V2671Splc
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ATM

NM_000051.4:p.K2670_V2671Splc

Associated Papers

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

Magliozzi M et al.

Disease Markers, 2006

Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

Coutinho G et al.

American Journal of Medical Genetics. Part A, 2004

Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

Mitui M et al.

Human Mutation, 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."