Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.Q567*
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PDE6B

NM_000283.4:p.Q567*

Associated Papers

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.

Kuehlewein L et al.

International Journal of Molecular Sciences, 2021

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

Palmowski-Wolfe A et al.

Klinische Monatsblatter Fur Augenheilkunde, 2019

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Weisschuh N et al.

Plos One, 2016

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Eisenberger T et al.

Plos One, 2013

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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."