Varaico: Literature-Extracted Genetic Variants

Gene:CCDC39
Variant:p.T358fs
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CCDC39

NM_181426.2:p.T358fs

Associated Papers

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

Gao Y et al.

Human Reproduction Update, 2026

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.

Wilken A et al.

Cells, 2024

39056782 (PubMed )
Supplement: cells-13-01200-s001.zip › cells-3014467-supplementary.pdf

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

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."