Varaico: Literature-Extracted Genetic Variants

Gene:CNGB1
Variant:p.A1048fs
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CNGB1

NM_001297.5:p.A1048fs

Associated Papers

CNGB1-related rod-cone dystrophy: A mutation review and update.

Nassisi M et al.

Human Mutation, 2021

Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1.

Radojevic B et al.

Ophthalmic Genetics, 2021

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.

Cipriani V et al.

Genes, 2020

32340307 (PubMed )
Supplement: genes-11-00460-s001.pdf

Isolated rod dysfunction associated with a novel genotype of CNGB1.

Ba-Abbad R et al.

American Journal of Ophthalmology Case Reports, 2019

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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."