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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RSPH4A

Variant:p.P204_S205insFs

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RSPH4A

NM_001010892.3:p.P204_S205insFs

hg38:chr6:116617232 C>CCCCA

Associated Papers

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

Ogata R et al.

Respiratory Investigation, 2025

40262389 (PubMed )

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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."