Varaico: Literature-Extracted Genetic Variants

Gene:CAPZA2
Variant:p.Q73_V74Splc
Back to variants list

CAPZA2

NM_006136.3:p.Q73_V74Splc

Associated Papers

Deciphering the role of CAPZA2 in neurodevelopmental disorders: insights from mouse models.

Guo M et al.

Communications Biology, 2025

Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review.

Zhang XM et al.

Journal of Human Genetics, 2024

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."