Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K638_D639insA
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ATM

NM_000051.4:p.K638_D639insA

Associated Papers

BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature.

Van Ommeren RH et al.

Journal of Neuropathology and Experimental Neurology, 2018

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

Horn D et al.

American Journal of Medical Genetics. Part A, 2016

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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."