Varaico: Literature-Extracted Genetic Variants

Gene:CNGA1
Variant:p.L85delFs
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CNGA1

NM_001379270.1:p.L85delFs

Associated Papers

Collision of Retinitis Pigmentosa and Von-Hippel Lindau Disease.

Zhuang X et al.

American Journal of Ophthalmology, 2026

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

Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project.

Ying D et al.

Human Genetics, 2025

Highly efficient capture approach for the identification of diverse inherited retinal disorders.

Kao HJ et al.

Npj Genomic Medicine, 2024

38195571 (PubMed )
Supplement: 41525_2023_388_MOESM5_ESM.xlsx › In-silico_prediction_of_all_var

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table4.xlsx › Results

[Connexin gene mutation and disease].

Huo ZH et al.

Sheng Li Ke Xue Jin Zhan [progress in Physiology], 1999

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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."