Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.C633fs
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CASK

NM_001367721.1:p.C633fs

Associated Papers

A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient.

Bozarth X et al.

American Journal of Medical Genetics. Part A, 2018

Late-onset epileptic spasms in a female patient with a CASK mutation.

Nakajiri T et al.

Brain & Development, 2015

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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."