Varaico: Literature-Extracted Genetic Variants

Gene:CFAP54
Variant:p.G313R
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CFAP54

NM_001306084.2:p.G313R

Associated Papers

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

Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA.

Tian S et al.

Journal of Medical Genetics, 2023

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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."