Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.G178R
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CASK

NM_001367721.1:p.G178R

Associated Papers

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain.

Tibbe D et al.

Life Science Alliance, 2022

[New mutation in the CASK gene in a child with microcephaly syndrome and pontocerebellar hypoplasia].

González-Roca I et al.

Revista De Neurologia, 2020

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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."