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

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    Medicine & Life Sciences