Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.N605S
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PDE6B

NM_000283.4:p.N605S

Associated Papers

New focus on regulation of the rod photoreceptor phosphodiesterase.

Gulati S et al.

Current Opinion in Structural Biology, 2021

The PDE6 mutation in the rd10 retinal degeneration mouse model causes protein mislocalization and instability and promotes cell death through increased ion influx.

Wang T et al.

The Journal of Biological Chemistry, 2018

Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.

Sothilingam V et al.

Human Molecular Genetics, 2015

Atypical retinal degeneration 3 in mice is caused by defective PDE6B pre-mRNA splicing.

Muradov H et al.

Vision Research, 2012

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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."