Varaico: Literature-Extracted Genetic Variants

Gene:CFAP410
Variant:p.E96K
Back to variants list

CFAP410

NM_004928.3:p.E96K

Associated Papers

Variants in CFAP410 cause a range of retinal and skeletal phenotypes.

Schmidt RE et al.

Npj Genomic Medicine, 2025

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

Sangermano R et al.

Npj Genomic Medicine, 2024

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

Sangermano R et al.

Research Square, 2024

Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma.

Yang S et al.

Frontiers in Medicine, 2023

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

de Castro-Miró M et al.

Plos One, 2016

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."