Varaico: Literature-Extracted Genetic Variants

Gene:DNAI2
Variant:p.S115_I116Splc
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DNAI2

NM_023036.6:p.S115_I116Splc

Associated Papers

Changes in sputum viscoelastic properties and airway inflammation in primary ciliary dyskinesia are comparable to cystic fibrosis on elexacaftor/tezacaftor/ivacaftor therapy.

Nussstein H et al.

The European Respiratory Journal, 2026

40967762 (PubMed )
Supplement: ERJ-00616-2025.Supplement.pdf

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

Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.

Baz-Redón N et al.

Archivos De Bronconeumologia, 2021

Genetic basis of human left-right asymmetry disorders.

Deng H et al.

Expert Reviews in Molecular Medicine, 2015

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.

Leigh MW et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.

Loges NT et al.

American Journal of Human Genetics, 2008

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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."