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Q28145027-E58E320A-9E56-437F-8D2A-4955A885348C
Q28145027-E58E320A-9E56-437F-8D2A-4955A885348C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28145027-E58E320A-9E56-437F-8D2A-4955A885348C
A missense mutation in the OCTN2 gene associated with residual carnitine transport activity
P2860
Q28145027-E58E320A-9E56-437F-8D2A-4955A885348C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28145027-E58E320A-9E56-437F-8D2A-4955A885348C
rank
NormalRank
type
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Statement
wasDerivedFrom
f28c86de3b518e8bc71a768d1b013c84e0e9c984
P2860
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter