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Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1

  • Anna M Siemiatkowska
  • , Janneke H M Schuurs-Hoeijmakers
  • , Danielle G M Bosch
  • , F Nienke Boonstra
  • , Frans C C Riemslag
  • , Mariken Ruiter
  • , Bert B A de Vries
  • , Anneke I den Hollander
  • , Rob W J Collin
  • , Frans P M Cremers

    Research output: Contribution to journalArticleResearchpeer-review

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    Medicine and Dentistry

    Biochemistry, Genetics and Molecular Biology