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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE6C

Variant:p.K199E

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PDE6C

NM_006204.4:p.K199E

hg38:chr10:93620746 A>G

Associated Papers

PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.

Daich Varela M et al.

Investigative Ophthalmology & Visual Science, 2020

33001157 (PubMed )

Deep Phenotyping of PDE6C-Associated Achromatopsia.

Georgiou M et al.

Investigative Ophthalmology & Visual Science, 2019

31826238 (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."