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deletions provide evidence for true haploinsufficiency in Marfan
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E, Barthelmes D, Zeitz C, Fleischhauer J, Berger W (2007)
Identification and characterization of a novel RPGR isoform in human
retina. Hum Mutat 28:797-807
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Kloeckener-Gruissem B, Niemeyer CM, Vanscheidt W (2007) Late
manifestation of dyskeratosis congenita presenting as chronic dermal
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genetic variation in the adenosine A2A receptor gene (ADORA2A)
contributes to individual sensitivity to caffeine effects on sleep.
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Zeitz C (2007)
Molecular genetics and protein function involved in nocturnal vision.
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Night blindness-associated mutations in the ligand-binding,
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