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Torsion dystonia 1 (DYT1) (hotspot mutation - c.907_909 delGAG)
TOR1A
Early-onset generalized limb-onset dystonia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Torsion dystonia 1 (DYT1) (hot spot mutation - c.907_909delGAG)
TOR1A
Early-onset generalized limb-onset dystonia
Centrum Menselijke Erfelijkheid - KUL
Torsion dystonia 1 (hot spot mutation - c.907_909delGAG)
TOR1A
Early-onset generalized limb-onset dystonia
Centre de Génétique Humaine - Erasme ULB
Canavan disease (hot spot mutation - p.Glu285Ala, p.Tyr231*)
ASPA
Mild Canavan disease
,
Severe Canavan disease
Centrum Medische Genetica - UZ Antwerpen
Oligodontia-colorectal cancer syndrome
AXIN2
Oligodontia-cancer predisposition syndrome
Centre de Génétique Médicale UCL
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