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Cerebral folate transport deficiency (2 genes)
FOLR1
,
FOLR2
Cerebral folate transport deficiency (2 genes) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Immunodeficiency - Activated PI3K-delta syndrome
PIK3CD
Activated PI3K-delta syndrome
Centrum Menselijke Erfelijkheid - KUL
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
Spinocerebellar ataxia (type 13)
KCNC3
Spinocerebellar ataxia type 13
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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