Varaico: Literature-Extracted Genetic Variants

Gene:CACNA2D4
Variant:p.E789_A790insFs
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CACNA2D4

NM_172364.5:p.E789_A790insFs

Associated Papers

Depleted Calcium Stores and Increased Calcium Entry in Rod Photoreceptors of the Cacna2d4 Mouse Model of Cone-Rod Dystrophy RCD4.

Vellani V et al.

International Journal of Molecular Sciences, 2022

A New Splicing Isoform of Cacna2d4 Mimicking the Effects of c.2451insC Mutation in the Retina: Novel Molecular and Electrophysiological Insights.

Bacchi N et al.

Investigative Ophthalmology & Visual Science, 2015

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies.

den Hollander AI et al.

The Journal of Clinical Investigation, 2010

Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation.

Wycisk KA et al.

Investigative Ophthalmology & Visual Science, 2006

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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."