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Project

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

Information

Project Team

Organisations

Outputs and Outcomes

Publications

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 GolovlevaAndrew GreenJohn HeckenlivelyBart LeroyIsabelle MeunierElias TraboulsiBernd WissingerSusanne Kohl et al.

A1 Journal Article in HUMAN MUTATION

2018