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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
Floating Harbor
SRCAP
Floating-Harbor syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Thrombophilia due to protein C deficiency (PROC gene)
PROC
Severe hereditary thrombophilia due to congenital protein C deficiency
Centrum Medische Genetica - UZ Brussel VUB
WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome
CXCR4
WHIM syndrome
Centrum Menselijke Erfelijkheid - KUL
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