Varaico: Literature-Extracted Genetic Variants

Gene:CAPZA2
Variant:p.K256E
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CAPZA2

NM_006136.3:p.K256E

Associated Papers

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

Guo M et al.

Communications Biology, 2025

Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.

Mok JW et al.

Genome Research, 2025

40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1

Variant functional assessment in Drosophila by overexpression: what can we learn?

Her Y et al.

Genome, 2024

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

A de novo inframe deletion variant in CAPZA2 tentacle domain with global developmental delay and secondary microcephaly.

Pi S et al.

Clinical Genetics, 2022

Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.

Huang Y et al.

Human Molecular Genetics, 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."