Varaico: Literature-Extracted Genetic Variants

Gene:RSPH9
Variant:p.R156*
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RSPH9

NM_152732.5:p.R156*

Associated Papers

Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus.

Yiallouros PK et al.

Journal of Thoracic Disease, 2019

Rsph9 is critical for ciliary radial spoke assembly and central pair microtubule stability.

Zhu L et al.

Biology of the Cell, 2019

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.

Frommer A et al.

American Journal of Respiratory Cell and Molecular Biology, 2015

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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."