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Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
MT-TL1
MELAS
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Diabetes, mitochondrial (hot spot mutation - m.3243A>G, MTTL1 (tRNA-Leu) )
MT-TL1
MELAS
Centrum Medische Genetica - UZ Antwerpen
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (full sequencing)
MT-TL1
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
MT-TL1
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Kabuki syndrome (gene panel)
KMT2D
,
KDM6A
,
KMT2A
,
HNRNPK
,
RAP1A
,
RAP1B
,
PACS1
Kabuki (7 genes) - IPG
Kabuki syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
CYP2B6*6,*11,*18 genotyping - drug metabolism - Pharmacogenetics
CYP2B6
Efavirenz toxicity
Centre de Génétique Médicale UCL
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