Varaico: Literature-Extracted Genetic Variants

Gene:CLTC
Variant:p.E1526fs
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CLTC

NM_004859.4:p.E1526fs

Associated Papers

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF et al.

American Journal of Human Genetics, 2017

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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."