Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.V835insFs
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ATM

NM_000051.4:p.V835insFs

Associated Papers

ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.

Babaei M et al.

Human Genetics, 2005

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

Teraoka SN et al.

American Journal of Human Genetics, 1999

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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."