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Details of RareLSD ID D_1104
Primary information
Disease_IDD_1104
DiseaseAction myoclonus–renal failure (AMRF)
CategoryIntegral membrane Protein Disorder(OTHER)
ENZYME LEVEL IN PATIENT (nmol/h/mg protein)nr
M-6-Pna
GeneSCARB2 /LIMP2
Type of EnzymeTMP