A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

• Jan Hauke ,

  Contributed equally to this work with: Jan Hauke, Andrea Schild

  Affiliations Institute of Human Genetics, University of Cologne, Cologne, Germany, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany, Center of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany

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• Andrea Schild ,

  Contributed equally to this work with: Jan Hauke, Andrea Schild

  Affiliation Department of Ophthalmology, University of Cologne, Cologne, Germany

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• Antje Neugebauer,

  Affiliation Department of Ophthalmology, University of Cologne, Cologne, Germany

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• Alexandra Lappa,

  Affiliation Department of Ophthalmology, University of Cologne, Cologne, Germany

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• Julia Fricke,

  Affiliation Department of Ophthalmology, University of Cologne, Cologne, Germany

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• Sascha Fauser,

  Affiliation Department of Ophthalmology, University of Cologne, Cologne, Germany

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• Stefanie Rösler,

  Affiliations Institute of Human Genetics, University of Cologne, Cologne, Germany, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany

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• Andrea Pannes,

  Affiliation Institute of Human Genetics, University of Cologne, Cologne, Germany

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• Dirk Zarrinnam,

  Affiliation Medical Practice Dr. Zarrinnam, Heinsberg, Germany

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• Janine Altmüller,

  Affiliation Cologne Center for Genomics, University of Cologne, Cologne, Germany

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• Susanne Motameny,

  Affiliation Cologne Center for Genomics, University of Cologne, Cologne, Germany

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• Gudrun Nürnberg,

  Affiliation Cologne Center for Genomics, University of Cologne, Cologne, Germany

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• Peter Nürnberg,

  Affiliations Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany, Cologne Center for Genomics, University of Cologne, Cologne, Germany, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany

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• Eric Hahnen ,

  * E-mail: eric.hahnen@uk-koeln.de

  ¶These authors are joint senior authors on this work.

  Affiliations Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany, Center of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany

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• Bodo B. Beck

  ¶These authors are joint senior authors on this work.

  Affiliation Institute of Human Genetics, University of Cologne, Cologne, Germany

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