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

Invest Ophthalmol Vis Sci · 2020 · PMC7545085 · PMID 33001157

Europe PMC DOI

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highly significantno p-value reported

A missense variant (p.Pro391Leu) of PDE6C present in GAF B domain is reported to result in decreased PDE activity in highly significant manner. 47 In our study, [p.(Thr436Ser)] also resides in GAF B domain and might affect protein activity in a similar way.

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