Varaico: Literature-Extracted Genetic Variants

Gene:CNGB1
Variant:p.Y797ins2
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CNGB1

NM_001297.5:p.Y797ins2

Associated Papers

Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa.

Occelli LM et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2023

CNG channel-related retinitis pigmentosa.

Gerhardt MJ et al.

Vision Research, 2023

The Natural History of CNGB1-Related Retinopathy: A Longitudinal Phenotypic Analysis.

Jackson DJ et al.

International Journal of Molecular Sciences, 2022

Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.

Petersen-Jones SM et al.

The Journal of Clinical Investigation, 2018

A large animal model for CNGB1 autosomal recessive retinitis pigmentosa.

Winkler PA et al.

Plos One, 2013

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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."