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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE6C

Variant:p.H262N

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PDE6C

NM_006204.4:p.H262N

hg38:chr10:93621992 C>A

Associated Papers

Mechanisms of mutant PDE6 proteins underlying retinal diseases.

Gopalakrishna KN et al.

Cellular Signalling, 2017

28583373 (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."