Varaico: Literature-Extracted Genetic Variants

Gene:CNGB3
Variant:p.S429delFs
Back to variants list

CNGB3

NM_019098.5:p.S429delFs

Associated Papers

Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.

Amaral RAS et al.

Genes, 2023

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

Mayer AK et al.

Human Mutation, 2017

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.

Di Iorio V et al.

Genes, 2017

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."