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Q42591143-FE3740FB-0C54-4CBA-8309-B93E92CB6114
Q42591143-FE3740FB-0C54-4CBA-8309-B93E92CB6114
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Statement
http://www.wikidata.org/entity/statement/Q42591143-FE3740FB-0C54-4CBA-8309-B93E92CB6114
Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene.
P2860
Q42591143-FE3740FB-0C54-4CBA-8309-B93E92CB6114
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42591143-FE3740FB-0C54-4CBA-8309-B93E92CB6114
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wasDerivedFrom
8dd68cb4428c18535ed404d27acc0890324a06d1
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.