Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2
Lisa M. Vincent(Utrecht University), Marjan Huizing(National Human Genome Research Institute), Wendy Westbroek(National Institutes of Health), Jennifer DiPace(Cornell University), James B. Bussel(Cornell University), Heidi Dorward(National Institutes of Health), William A. Gahl(National Institute of Child Health), Andrew Jeong(National Human Genome Research Institute), Carla Ciccone(National Institutes of Health), Thomas C. Markello(National Human Genome Research Institute)
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