Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.S39*
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RSPH4A

NM_001010892.3:p.S39*

Associated Papers

Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia-Related Infertility in Three Chinese Families.

Wang L et al.

Frontiers in Genetics, 2022

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

Shoemark A et al.

The European Respiratory Journal, 2021

Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.

Daniels ML et al.

Human Mutation, 2013

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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."