Varaico: Literature-Extracted Genetic Variants

Gene:RSPH1
Variant:p.W94*
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RSPH1

NM_080860.4:p.W94*

Associated Papers

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

Onoufriadis A et al.

Human Molecular Genetics, 2014

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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."