Varaico: Literature-Extracted Genetic Variants

Gene:RSPH3
Variant:p.R369W
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RSPH3

NM_031924.8:p.R369W

Associated Papers

An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia.

Zhou W et al.

Journal of Internal Medicine, 2025

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

Jeanson L et al.

American Journal of Human Genetics, 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."