Varaico: Literature-Extracted Genetic Variants

Gene:CNGB1
Variant:p.G848delFs
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CNGB1

NM_001297.5:p.G848delFs

Associated Papers

Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.

Zhang L et al.

Investigative Ophthalmology & Visual Science, 2025

41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.

De Geer K et al.

Acta Ophthalmologica, 2025

39643591 (PubMed )
Supplement: AOS-103-327-s002.xlsx › cohort_data

Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.

Sahin I et al.

Cureus, 2024

Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients.

Kim HM et al.

Genes, 2021

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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."