Varaico: Literature-Extracted Genetic Variants

Gene:RSPH1
Variant:p.K136fs
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RSPH1

NM_080860.4:p.K136fs

Associated Papers

Mucociliary and cough clearance in primary ciliary dyskinesia as affected by mutations in RSPH1 or DNAH5.

Ostrowski LE et al.

Erj Open Research, 2026

41561107 (PubMed )
Supplement: 00681-2025.SUPPLEMENT.pdf

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.

Knowles MR et al.

American Journal of Respiratory and Critical Care Medicine, 2014

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

Kott E et al.

American Journal of Human Genetics, 2013

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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."