A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.
Werren EA, Kalsner L, Ewald J, Peracchio M, King C, Vats P, Audano PA, Robinson PN, Adams MD, Kelly MA, Matson AP.
Werren EA, et al. Among authors: adams md.
bioRxiv [Preprint]. 2024 Apr 22:2024.04.18.590108. doi: 10.1101/2024.04.18.590108.
bioRxiv. 2024.
PMID: 38712026
Free PMC article.
Preprint.