Varaico: Literature-Extracted Genetic Variants

Gene:CEP250
Variant:p.E767fs
Back to variants list

CEP250

NM_007186.6:p.E767fs

Associated Papers

Syndromic Retinitis Pigmentosa: A 15-Patient Study.

Holanda IP et al.

Genes, 2024

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."