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Maple syrup urine disease (Leucinosis), type 1A
Gene: BCKDHA
Maple syrup urine disease (Leucinosis), type 1B
Gene: BCKDHB
Hirschsprung disease
Gene: RET
Hirschsprung disease
Gene: RET_MLPA
Hereditary pancreatitis
Gene: SPINK1
Hereditary pancreatitis
Gene: PRSS1
Hereditary pancreatitis
Gene: PRSS1_MLPA
Hereditary pancreatitis
Gene: SPINK1_MLPA
Hereditary hemochromatosis
Gene: HFE
Hereditary fructose intolerance
Gene: ALDOB
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