Research Explorer

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Project

CIS-CODE: disruption of the regulatory code in human genetic disease

Outputs & Impact

Publications & research data ( 1 )

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

Nicole WeisschuhKatarina StinglIsabelle AudoSaskia BiskupBeatrice BocquetKari BranhamMarie S. BurstedtElfride De BaereMeindert J. De VriesIrina Golovleva et al.

A1 Journal Article in HUMAN MUTATION

Activities ( 0 )

Results

Impact narratives ( 0 )

Patents ( 0 )