Varaico: Literature-Extracted Genetic Variants

Gene:RSPH4A
Variant:p.E377delFs
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RSPH4A

NM_001010892.3:p.E377delFs

Associated Papers

Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort.

Berry V et al.

Genes, 2025

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

Wang L et al.

Frontiers in Genetics, 2022

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

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

Raidt J et al.

The European Respiratory Journal, 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."