title: The challenge of defining pathogenicity: the example of AHI1.
authors.affiliation: Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
authors.forename: Raoul
authors.initials: R
authors.lastname: Heller
authors.affiliation: 1] Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany [2] Bioscientia Center for Human Genetics, Ingelheim, Germany.
authors.forename: Hanno J
authors.initials: HJ
authors.lastname: Bolz
mesh_terms: D005260:Female; D006801:Humans; D008297:Male; D058499:Retinal Dystrophies / Q000175:diagnosis* / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics*