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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GUCY2D

Variant:p.E837K

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GUCY2D

NM_000180.4:p.E837K

hg38:chr17:8014697 G>A

Associated Papers

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

Rodilla C et al.

American Journal of Ophthalmology, 2023

37327959 (PubMed )

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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."