Varaico: Literature-Extracted Genetic Variants

Gene:CFAP43
Variant:p.R1378*
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CFAP43

NM_025145.7:p.R1378*

Associated Papers

Multifactorial analysis of male infertility: sperm DNA damage, semen parameters, and genetic testing in Iranian infertile men.

Motamed M et al.

Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [di] Societa Italiana Di Ecografia Urologica E Nefrologica, 2025

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

Zhou Y et al.

Genes, 2024

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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

NovelCFAP43 andCFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF).

Wu H et al.

Reproductive Biomedicine Online, 2019

A systematic review on the genetics of male infertility in the era of next-generation sequencing.

Robay A et al.

Arab Journal of Urology, 2018

Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.

Tang S et al.

American Journal of Human Genetics, 2017

Whole-exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer.

Lohr JG et al.

Nature Biotechnology, 2014

24752078 (PubMed )
Supplement: NIHMS581049-supplement-4.xlsx › Sheet1
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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."