Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.H620R
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PDE6B

NM_000283.4:p.H620R

Associated Papers

Exploring the Genetic Causes of Nonsyndromic Retinal Dystrophies in Qatar.

Abiib S et al.

Genes, 2025

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

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

van Huet RA et al.

Molecular Vision, 2015

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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."