Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.K689*
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CASK

NM_001367721.1:p.K689*

Associated Papers

CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.

Tellerday J et al.

American Journal of Medical Genetics. Part A, 2024

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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."