Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP1
Variant:p.E1063*
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NCKAP1

NM_205842.3:p.E1063*

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

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Edwards JJ et al.

Jacc. Basic to Translational Science, 2020

High throughput in vivo functional validation of candidate congenital heart disease genes in Drosophila.

Zhu JY et al.

Elife, 2017

28084990 (PubMed )
Supplement: elife-22617-supp1.xlsx › Sheet1

De novo mutations in histone-modifying genes in congenital heart disease.

Zaidi S et al.

Nature, 2013

23665959 (PubMed )
Supplement: NIHMS483564-supplement-1.pdf
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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."