Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.P87S
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RSPH4A

NM_001010892.3:p.P87S

Associated Papers

Genetic Characterization of Primary Ciliary Dyskinesia in a Consanguineous Population: Insights From the Largest Middle Eastern Cohort.

Al Adawi K et al.

Pediatric Pulmonology, 2025

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.

Castleman VH et al.

American Journal of Human Genetics, 2009

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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."