Varaico: Literature-Extracted Genetic Variants

Gene:CAPZA2
Variant:p.R259_R260del1
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CAPZA2

NM_006136.3:p.R259_R260del1

Associated Papers

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

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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."