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Epilepsy, AD nocturnal, frontal lobe, ADNFLE
Gene: CHRNB2
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)
PIK3CA-related overgrowth syndrome
Gene: PIK3CA
Legg-Calvé-Perthes disease
Gene: COL2A1
Ovarian granulous cells tumor marker
Gene: FOXL2 (c.402C>G)
Pfenylketonuria
Gene: PAH p.R252W
Glioblastoma
Gene: PTEN
Pulmonary hypertension
Gene: BMPR2
Wilms tumor, predisposition
Gene: WT1
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