Varaico: Literature-Extracted Genetic Variants

Gene:GUCA1A
Variant:p.R172Q
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GUCA1A

NM_001384910.1:p.R172Q

Associated Papers

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.

Georgiou M et al.

Progress in Retinal and Eye Research, 2024

Retinal imaging in inherited retinal diseases.

Georgiou M et al.

Annals of Eye Science, 2020

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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."