Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.V347A
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CFAP43

NM_025145.7:p.V347A

Associated Papers

Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.

Awad F et al.

Frontiers in Reproductive Health, 2025

The Molecular Basis of Multiple Morphological Abnormalities of Sperm Flagella and Its Impact on Clinical Practice.

Zhou Y et al.

Genes, 2024

Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection.

Ma J et al.

Asian Journal of Andrology, 2023

Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders.

Oud MS et al.

Human Reproduction (oxford, England), 2021

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.

Coutton C et al.

Nature Communications, 2018

Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families.

Khan I et al.

Asian Journal of Andrology, 0

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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."