Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1
Variant:p.L17P
Back to variants list

NCKAP1

NM_013436.5:p.L17P

Associated Papers

A De Novo Loss-of-Function NCKAP1 Variant in a Boy with Neurodevelopmental Delay and Congenital Heart Defect.

Zhang W et al.

Children (basel, Switzerland), 2025

41462819 (PubMed )
Supplement: children-12-01680-s001.zip › children-3999357-supplementary.pdf

Nap1-regulated neuronal cytoskeletal dynamics is essential for the final differentiation of neurons in cerebral cortex.

Yokota Y et al.

Neuron, 2007

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."