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Q58733415-8A630F2A-369C-4EF9-8B3E-089A03D04E15
Q58733415-8A630F2A-369C-4EF9-8B3E-089A03D04E15
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Statement
http://www.wikidata.org/entity/statement/Q58733415-8A630F2A-369C-4EF9-8B3E-089A03D04E15
Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy
P2860
Q58733415-8A630F2A-369C-4EF9-8B3E-089A03D04E15
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58733415-8A630F2A-369C-4EF9-8B3E-089A03D04E15
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wasDerivedFrom
e39fd233ac6247b7c61a55334f597f28b06f0ade
P2860
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.