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Q33656924-7EA3E795-B755-419F-91F8-39871042F8F8
Q33656924-7EA3E795-B755-419F-91F8-39871042F8F8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33656924-7EA3E795-B755-419F-91F8-39871042F8F8
Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.
P2860
Q33656924-7EA3E795-B755-419F-91F8-39871042F8F8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33656924-7EA3E795-B755-419F-91F8-39871042F8F8
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wasDerivedFrom
a39cbde03895f558e4923ee79637912e979e9822
P2860
Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene.