Varaico: Literature-Extracted Genetic Variants

Gene:SKIC2
Variant:p.C213insFs
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SKIC2

NM_006929.5:p.C213insFs

Associated Papers

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."