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Carnitine Palmitoyltransferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, myopathic form
,
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
,
Carnitine palmitoyl transferase II deficiency, myopathic form
Centrum Medische Genetica - UZ Antwerpen
Small cell carcinoma of the ovary
SMARCA4
Small cell carcinoma of the ovary
Centrum Medische Genetica - UZ Gent
Rare non-epithelial ovarian neoplasms (2 genes)
DICER1
,
SMARCA4
Small cell carcinoma of the ovary
,
Malignant Sertoli-Leydig cell tumor of the ovary
,
Maligant granulosa cell tumor of the ovary
Centrum Menselijke Erfelijkheid - KUL
Multiple epiphyseal dysplasia
COL2A1
,
SLC26A2
Multiple epiphyseal dysplasia type 4
Centrum Medische Genetica - UZ Gent
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
,
Charcot-Marie-Tooth disease type 1E
Centrum Medische Genetica - UZ Antwerpen
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