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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE6B

Variant:p.R602C

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PDE6B

NM_000283.4:p.R602C

hg38:chr4:662590 C>T

Associated Papers

Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.

Sung YC et al.

Genes, 2020

33261146 (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."