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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GUCY2D

Variant:p.E843Q

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GUCY2D

NM_000180.4:p.E843Q

hg38:chr17:8014715 G>C

Associated Papers

Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient.

Takeda Y et al.

Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 2020

32009068 (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."