Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.Y129*
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CCDC40

NM_017950.4:p.Y129*

Associated Papers

Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes.

Liu Z et al.

Genetic Testing and Molecular Biomarkers, 2024

38837151 (PubMed )
Supplement: sj-pdf-4-gtm-10.1089_gtmb.2023.0263.pdf

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.

Fassad MR et al.

Clinical Genetics, 2020

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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."