Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.G73fs
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RSPH4A

NM_001010892.3:p.G73fs

Associated Papers

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

40852414 (PubMed )
Supplement: Datasheet1.pdf
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