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Beckwith-Wiedemann syndrome
Gene: UPD11
Beckwith-Wiedemann syndrome
Gene: 11p15.5 region
Barth syndrome
Gene: TAZ
Andersen syndrome
Gene: KCNJ2
Alström syndrome
Gene: ALMS1
Alagille syndrome, type 1
Gene: JAG1
Alagille syndrome, type 1
Gene: JAG1_MLPA
Alagille syndrome, type 2
Gene: NOTCH2 (without exons 2,3,4)
Adams-Oliver Syndrome
Gene: ARHGAP31
Warfarin metabolism
Gene: CYP2C9: 430C>T, 1075A>C; VKORC1: -1639G>A
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