Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.S473L
Back to variants list

CFAP43

NM_025145.7:p.S473L

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

Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study.

Olivier M et al.

Plos One, 2019

30653559 (PubMed )
Supplement: pone.0210372.s001.xlsx › Table_C
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."