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Wilson disease (most common variants of ATP7B gene)
Gene: ATP7B (c.3207C>A,c.1340_1343del4,c.3402delC,c.2337G>A,c.2332C>G)
Cystic fibrosis (F508del)
Gene: CFTR (F508del)
Epilepsy, AD nocturnal, frontal lobe, ADNFLE
Gene: CHRNB2
PIK3CA-related overgrowth syndrome
Gene: PIK3CA
Legg-Calvé-Perthes disease
Gene: COL2A1
Legg-Calvé-Perthes disease
Gene: COL2A1_MLPA
Ataxia with oculomotor apraxia, type 1
Gene: APTX_MLPA
Pfenylketonuria
Gene: PAH p.R252W
Glioblastoma
Gene: PTEN_MLPA
Glioblastoma
Gene: PTEN
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