Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2F
Variant:p.E155G
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GUCY2F

NM_001522.3:p.E155G

Associated Papers

Retinal guanylyl cyclase isozyme 1 is the preferential in vivo target for constitutively active GCAP1 mutants causing congenital degeneration of photoreceptors.

Olshevskaya EV et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2012

Involvement of the calcium sensor GCAP1 in hereditary cone dystrophies.

Behnen P et al.

Biological Chemistry, 2010

Guanylate cyclases and associated activator proteins in retinal disease.

Hunt DM et al.

Molecular and Cellular Biochemistry, 2010

Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.

Wilkie SE et al.

American Journal of Human Genetics, 2001

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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."