Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.S150*
Back to variants list

CRX

NM_000554.6:p.S150*

Associated Papers

Nasal Retinal Degeneration Is a Feature of a Subset of CRX-Associated Retinopathies.

Massengill MT et al.

Genes, 2026

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Cremers FPM et al.

Progress in Retinal and Eye Research, 2020

Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.

Yi Z et al.

Experimental Eye Research, 2019

Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.

Duncker T et al.

Ophthalmology, 2015

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Yamamoto S et al.

Cell, 2014

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."