Varaico: Literature-Extracted Genetic Variants

Gene:NEK3
Variant:p.T373insFs
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NEK3

NM_002498.3:p.T373insFs

Associated Papers

Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.

Rai A et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Biallelic loss of function NEK3 mutations deacetylate α-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left-right patterning.

Zhang Y et al.

Cell Death & Disease, 2020

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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."