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Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

  • Christina Zeitz
  • , Christelle Michiels
  • , Marion Neuillé
  • , Christoph Friedburg
  • , Christel Condroyer
  • , Fiona Boyard
  • , Aline Antonio
  • , Nassima Bouzidi
  • , Diana Milicevic
  • , Robin Veaux
  • , Aurore Tourville
  • , Axelle Zoumba
  • , Imene Seneina
  • , Marine Foussard
  • , Camille Andrieu
  • , Markus N Preising
  • , Steven Blanchard
  • , Jean-Paul Saraiva
  • , Lilia Mesrob
  • , Edith Le Floch
  • Claire Jubin, Vincent Meyer, Hélène Blanché, Anne Boland, Jean-François Deleuze, Dror Sharon, Isabelle Drumare, Sabine Defoort-Dhellemmes, Elfride De Baere, Bart P Leroy, Xavier Zanlonghi, Ingele Casteels, Thomy J de Ravel, Irina Balikova, Rob K Koenekoop, Fanny Laffargue, Rebecca McLean, Irene Gottlob, Dominique Bonneau, Daniel F Schorderet, Francis L Munier, Martin McKibbin, Katrina Prescott, Valerie Pelletier, Hélène Dollfus, Yaumara Perdomo-Trujillo, Céline Faure, Charlotte Reiff, Bernd Wissinger, Isabelle Meunier, Susanne Kohl, Eyal Banin, Eberhart Zrenner, Bernhard Jurklies, Birgit Lorenz, José-Alain Sahel, Isabelle Audo

Research output: Contribution to journalArticlepeer-review

32 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology