Associated Papers
Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.
Werren EA et al.
American Journal of Medical Genetics. Part A, 2025
PAK2 Haploinsufficiency Results in Synaptic Cytoskeleton Impairment and Autism-Related Behavior.
Wang Y et al.
Cell Reports, 2018
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