Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.W24*
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RSPH4A

NM_001010892.3:p.W24*

Associated Papers

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.

Rumman N et al.

Erj Open Research, 2023

Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia.

Lee DDH et al.

The European Respiratory Journal, 2021

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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."