Varaico: Literature-Extracted Genetic Variants

Gene:PAK2
Variant:p.Q279P
Back to variants list

PAK2

NM_002577.4:p.Q279P

Associated Papers

Retinal detachment in a neonate with congenital chylothorax and purpura fulminans associated with the PAK2 genetic variant: A case report.

Lodha A et al.

International Journal of Surgery Case Reports, 2025

Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign.

Domenach L et al.

Bmc Medical Genomics, 2025

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."