Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.T495N
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RSPH4A

NM_001010892.3:p.T495N

Associated Papers

Primary ciliary dyskinesia in a Japanese woman caused by a novel RSPH4A variant.

Ogata R et al.

Respiratory Investigation, 2025

Analysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in the RSPH4A gene: a case report.

Xu W et al.

Frontiers in Pediatrics, 2025

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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."