Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.W290*
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PDE6B

NM_000283.4:p.W290*

Associated Papers

Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.

Park HS et al.

Journal of Korean Medical Science, 2025

40296824 (PubMed )
Supplement: jkms-40-e54-s001.xls › causative_variants_by_patientno

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Vincke L et al.

Npj Genomic Medicine, 2025

40055385 (PubMed )
Supplement: 41525_2025_473_MOESM2_ESM.xlsx › Sheet1

Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean Patients.

Park Y et al.

Current Issues in Molecular Biology, 2024

Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

Wang J et al.

Investigative Ophthalmology & Visual Science, 2014

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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."