Varaico: Literature-Extracted Genetic Variants

Gene:CNGB1
Variant:p.A1048fs
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CNGB1

NM_001297.5:p.A1048fs

Associated Papers

The genomic and transcriptome characteristics of lung adenocarcinoma patients with previous breast cancer.

Wang Y et al.

Bmc Cancer, 2022

Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants.

Alshamrani AA et al.

American Journal of Ophthalmology Case Reports, 2020

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

Petersen-Jones SM et al.

The Journal of Clinical Investigation, 2018

29202463 (PubMed )
Supplement: jci-128-95161-s001.pdf

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.

Hull S et al.

Jama Ophthalmology, 2017

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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."