Varaico: Literature-Extracted Genetic Variants

Gene:CFAP74
Variant:p.P569insFs
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CFAP74

NM_001304360.2:p.P569insFs

Associated Papers

CFAP74 Variants Could Cause Male Infertility With the Asthenoteratozoospermia Phenotype.

Chen G et al.

Annals of Human Genetics, 2025

In situ structure of the mouse sperm central apparatus reveals mechanistic insights into asthenozoospermia.

Zhu Y et al.

Cell Research, 2025

40473901 (PubMed )
Supplement: 41422_2025_1135_MOESM38_ESM.pdf

Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.

Wohlgemuth K et al.

The European Respiratory Journal, 2024

Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.

Biebach L et al.

American Journal of Respiratory Cell and Molecular Biology, 2022

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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."