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Q39922868-8F713E2B-EA74-4BB5-996B-99D4CBED4C6F
Q39922868-8F713E2B-EA74-4BB5-996B-99D4CBED4C6F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39922868-8F713E2B-EA74-4BB5-996B-99D4CBED4C6F
A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration.
P2860
Q39922868-8F713E2B-EA74-4BB5-996B-99D4CBED4C6F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39922868-8F713E2B-EA74-4BB5-996B-99D4CBED4C6F
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wasDerivedFrom
b0f6e783a284689ed9975530b90da3ab14d44987
P2860
Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models.