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1
Q24301469-9258DC15-4C67-4DF1-8C52-2755548ECDA7
Q24301469-9258DC15-4C67-4DF1-8C52-2755548ECDA7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24301469-9258DC15-4C67-4DF1-8C52-2755548ECDA7
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
P2860
Q24301469-9258DC15-4C67-4DF1-8C52-2755548ECDA7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24301469-9258DC15-4C67-4DF1-8C52-2755548ECDA7
rank
NormalRank
type
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Statement
wasDerivedFrom
ba6cb8e8eb27439b2823ea639297a672a8e6abcb
P2860
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases