Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.G576S
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PDE6B

NM_000283.4:p.G576S

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

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.

Ullah M et al.

Npj Genomic Medicine, 2025

40180963 (PubMed )
Supplement: 41525_2025_488_MOESM2_ESM.xlsx › Sheet1

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

Hashem SA et al.

American Journal of Ophthalmology, 2024

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Schlottmann PG et al.

Npj Genomic Medicine, 2023

37217489 (PubMed )
Supplement: 41525_2023_352_MOESM2_ESM.xlsx › Hoja1

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

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.

Khateb S et al.

Jama Ophthalmology, 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."