Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.P625L
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CASK

NM_001367721.1:p.P625L

Associated Papers

Patient-Derived Variants Define Constraints for Ligand Binding at the PDZ Domain of CASK.

Tibbe D et al.

Journal of Neurochemistry, 2025

Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.

Guo Q et al.

Cells, 2023

A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.

Seto T et al.

Intractable & Rare Diseases Research, 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."