Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.E271K
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PDE6B

NM_000283.4:p.E271K

Associated Papers

Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.

Testa F et al.

Investigative Ophthalmology & Visual Science, 2025

40900079 (PubMed )
Supplement: iovs-66-12-5_s001.pdf

Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy.

Hashem SA et al.

American Journal of Ophthalmology, 2024

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients.

Palmowski-Wolfe A et al.

Klinische Monatsblatter Fur Augenheilkunde, 2019

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Tiwari A et al.

Scientific Reports, 2016

[Cause of retinitis pigmentosa and new therapeutics under development].

Sakamoto K et al.

Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2011

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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."