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New kinase‐deficient PAK2 variants associated with Knobloch syndrome type 2

18 Jun 2024

Abstract excerpt

The p21-activated kinase (PAK) family of proteins regulates various processes requiring dynamic cytoskeleton organization such as cell adhesion, migration, proliferation, and apoptosis. Among the six members of the protein family, PAK2 is specifically involved in apoptosis, angiogenesis, or the development of endothelial cells. We report a novel de novo heterozygous missense PAK2 variant, p.(Thr406Met), found in...

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PMID: 38894571
DOI: 10.1111/cge.14578

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