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Autoimmune lymphoproliferative syndrome
FASLG
Autoimmune lymphoproliferative syndrome
Centrum Menselijke Erfelijkheid - KUL
Autoimmune lymphoproliferative syndrome type 1A
FAS
Autoimmune lymphoproliferative syndrome
Centrum Menselijke Erfelijkheid - KUL
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
DPYD
5-fluorouracil toxicity
Centrum Medische Genetica - UZ Antwerpen
5-fluorouracil (5-FU) toxicity - DPYD sequencing (all exons) - Pharmacogenetics
DPYD
5-fluorouracil toxicity
Centre de Génétique Médicale UCL
Dihydropyrimidine dehydrogenase deficiency (5-fluorouracil (5-FU) toxicity) - Pharmacogenetics
DPYD
5-fluorouracil toxicity
,
Dihydropyrimidine dehydrogenase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
5-fluorouracil toxicity - DPYD genotyping (4 hot spot mutations - DPYD*2A, DPYD*13, D949V, HapB3) - Pharmacogenetics
DPYD
5-fluorouracil toxicity
Centre de Génétique Médicale UCL
Neurofibromatosis type 1 / Legius syndrome
NF1
,
SPRED1
Neurofibromatosis type 1
,
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
,
17q11 microdeletion syndrome
,
Legius syndrome
Centrum Medische Genetica - UZ Gent
Vitelliform Macular Dystrophy
BEST1
,
PRPH2
,
IMPG1
,
IMPG2
Best vitelliform macular dystrophy
,
Adult-onset foveomacular vitelliform dystrophy
Centrum Medische Genetica - UZ Gent
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