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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RDH8

Variant:p.E71insFs

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RDH8

NM_015725.4:p.E71insFs

hg38:chr19:10017165 A>AG

Associated Papers

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.

Garces F et al.

Investigative Ophthalmology & Visual Science, 2018

29847635 (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."