Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1A
Variant:p.E111D
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GUCA1A

NM_001384910.1:p.E111D

Associated Papers

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Maggi J et al.

International Journal of Molecular Sciences, 2021

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

GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy.

Sokal I et al.

Molecular Cell, 1998

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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."