RS80358257 NPC1
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What This Variant Does
"Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes...
Associated Conditions
Niemann-Pick disease
type C1
type C
6 conditions
NPC1-related disorder
Inborn genetic diseases
Niemann-Pick disease
type C1
type C
6 conditions
NPC1-related disorder
Inborn genetic diseases
Other Variants in NPC1