Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1A
Variant:p.A52S
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GUCA1A

NM_001384910.1:p.A52S

Associated Papers

Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.

Ito S et al.

Investigative Ophthalmology & Visual Science, 2004

Retinal diseases linked with photoreceptor guanylate cyclase.

Duda T et al.

Molecular and Cellular Biochemistry, 2002

Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene.

Bernstein PS et al.

Investigative Ophthalmology & Visual Science, 2001

Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis.

Duda T et al.

Biochemistry, 1999

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

Perrault I et al.

Nature Genetics, 1996

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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."