Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.D718N
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PDE6B

NM_000283.4:p.D718N

Associated Papers

Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.

Martins PM et al.

Investigative Ophthalmology & Visual Science, 2026

41615371 (PubMed )
Supplement: iovs-67-1-62_s003.xlsx › Supplementary_table_2

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

Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

Marta A et al.

Npj Genomic Medicine, 2025

39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families

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

Visual Cortical Plasticity in Retinitis Pigmentosa.

Lunghi C et al.

Investigative Ophthalmology & Visual Science, 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."