Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.Q451*
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RSPH4A

NM_001010892.3:p.Q451*

Associated Papers

Burkholderia cepacia complex in primary ciliary dyskinesia.

Muñiz-Hernández J et al.

Pediatric Pulmonology, 2024

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.

Shoemark A 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."