Lindstrand et al., 2016 - Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics   99:318-336 Full text @ Am. J. Hum. Genet.
15 Genes / Markers
Marker Type Symbol Name
Gene alms1 ALMS1 centrosome and basal body associated protein
Gene arl6 ADP-ribosylation factor-like 6
Gene bbs1 Bardet-Biedl syndrome 1
Gene bbs10 Bardet-Biedl syndrome 10
Gene bbs2 Bardet-Biedl syndrome 2
Gene bbs4 Bardet-Biedl syndrome 4
Gene bbs5 Bardet-Biedl syndrome 5
Gene bbs7 Bardet-Biedl syndrome 7
Gene bbs9 Bardet-Biedl syndrome 9
Gene cep290 centrosomal protein 290
Gene ift74 intraflagellar transport 74
Gene mkks MKKS centrosomal shuttling protein
Gene nphp1 nephronophthisis 1
Gene sdccag8 SHH signaling and ciliogenesis regulator sdccag8
Gene ttc8 tetratricopeptide repeat domain 8
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