Varaico: Literature-Extracted Genetic Variants

Gene:RSPH1
Variant:p.P228fs
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RSPH1

NM_080860.4:p.P228fs

Associated Papers

The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.

Gao Y et al.

Human Reproduction Update, 2026

Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility.

Aprea I et al.

Frontiers in Genetics, 2023

Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.

Raidt J et al.

Annals of the American Thoracic Society, 2022

35202559 (PubMed )
Supplement: raidt_data_supplement.pdf
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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."