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
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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