RS121918106 PSAP
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What This Variant Does
"[OMIM:?]
Associated Conditions
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy
Parkinson disease 24
autosomal dominant
susceptibility to
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy
Parkinson disease 24
autosomal dominant
Other Variants in PSAP