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1
Q43579799-E14D9604-F612-4D3D-8345-B8A3566E1AAD
Q43579799-E14D9604-F612-4D3D-8345-B8A3566E1AAD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q43579799-E14D9604-F612-4D3D-8345-B8A3566E1AAD
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.
P2093
Q43579799-E14D9604-F612-4D3D-8345-B8A3566E1AAD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q43579799-E14D9604-F612-4D3D-8345-B8A3566E1AAD
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
5bb50a5970ec6744b3012a0c426510544839d998
P1545
10
http://www.w3.org/2001/XMLSchema#string
P2093
Harzer K
http://www.w3.org/2001/XMLSchema#string