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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE6C

Variant:p.M595I

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PDE6C

NM_006204.4:p.M595I

hg38:chr10:93640967 G>C

Associated Papers

Clinical and Genetic Features of Korean Patients with Achromatopsia.

Choi YJ et al.

Genes, 2023

36833446 (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."