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Friedreich ataxia - GAA repeat expansion
FXN
Friedreich ataxia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Friedreich ataxia - GAA repeat expansion
FXN
Friedreich ataxia
Centre de Génétique Humaine - CHU Sart-Tilman
Friedreich ataxia - GAA repeat expansion
FXN
Friedreich ataxia
Centrum Menselijke Erfelijkheid - KUL
Myoclonic epilepsy of Unverricht and Lundborg / Progressive myoclonus epilepsy /Baltic myoclonic epilepsy
CSTB
Progressive myoclonic epilepsy type 1
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Myhre syndrome (hot spot mutation - p.I500)
SMAD4
Myhre syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Nijmegen Breakage Syndrome
NBN
Nijmegen breakage syndrome
Centrum Menselijke Erfelijkheid - KUL
Nijmegen breakage syndrome
NBN
Nijmegen breakage syndrome
Centrum Medische Genetica - UZ Gent
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