Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.W242*
Back to variants list

CASK

NM_001367721.1:p.W242*

Associated Papers

Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder.

Abe-Hatano C et al.

Molecular Syndromology, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."