Varaico: Literature-Extracted Genetic Variants

Gene:NEK10
Variant:p.R458Splc
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NEK10

NM_001394966.1:p.R458Splc

Associated Papers

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

Raidt J et al.

The European Respiratory Journal, 2024

38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2

Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.

Raidt J et al.

Annals of the American Thoracic Society, 2022

35202559 (PubMed )
Supplement: raidt_data_supplement.pdf

A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance.

Chivukula RR et al.

Nature Medicine, 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."