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Description

In summary, our data suggest that Munc18-1 Q301D represents a loss of function mutant with reduced VAMP2 affinity and Munc18-1 Q301R embodies a gain of function mutant that exhibits a higher VAMP2 affinity

These patients have a predominance of visceral obesity or lipodystrophy, and the body mass index (BMI) may not be sufficiently to define LEAN-P with NAFLD