Varaico: Literature-Extracted Genetic Variants

Gene:CASP7
Variant:p.A126A
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CASP7

NM_001227.5:p.A126A

Associated Papers

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

Jacquemin V et al.

European Journal of Human Genetics : Ejhg, 2012

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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."