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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EYS

Variant:p.R3094fs

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EYS

NM_001142800.2:p.R3094fs

hg38:chr6:63720751 TCT>N

Associated Papers

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

O'Sullivan J et al.

Journal of Medical Genetics, 2012

22581970 (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."