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epilepsy, progressive myoclonic 4, with or without renal failure
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Cancer Gene Census
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SCARB2
A mutation in SCARB2 is a modifier in Gaucher disease
Scavenger receptor B2 is a cellular receptor for enterovirus 71
At the acidic edge: emerging functions for lysosomal membrane proteins
The residues Leu(Ile)475-Ile(Leu, Val, Ala)476, contained in the extended carboxyl cytoplasmic tail, are critical for targeting of the resident lysosomal membrane protein LIMP II to lysosomes
Clinical Trials
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