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1
Q48113038-14116850-2BC8-4740-A268-8375D2DDE0AA
Q48113038-14116850-2BC8-4740-A268-8375D2DDE0AA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48113038-14116850-2BC8-4740-A268-8375D2DDE0AA
Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.
P2860
Q48113038-14116850-2BC8-4740-A268-8375D2DDE0AA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48113038-14116850-2BC8-4740-A268-8375D2DDE0AA
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
35123d72b68bad30da04ea5497d96f2600ba73dd
P2860
Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice