Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1A
Variant:p.E155D
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GUCA1A

NM_001384910.1:p.E155D

Associated Papers

Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy.

Kitiratschky VB et al.

Ophthalmic Genetics, 2011

A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.

Nishiguchi KM et al.

Investigative Ophthalmology & Visual Science, 2004

Guanylate cyclase-activating proteins: structure, function, and diversity.

Palczewski K et al.

Biochemical and Biophysical Research Communications, 2004

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

Molecular characterization of a third member of the guanylyl cyclase-activating protein subfamily.

Haeseleer F et al.

The Journal of Biological Chemistry, 1999

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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."