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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE6C

Variant:p.R313_E314Splc

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PDE6C

NM_006204.4:p.R313_E314Splc

hg38:chr10:93625654 G>T

Associated Papers

Genetic and Clinical Characterization of Danish Achromatopsia Patients.

Andersen MKG et al.

Genes, 2023

36980963 (PubMed )

Supplement: genes-14-00690-s001.zip › genes-2245142-supplementary.pdf

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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."