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Q37356651-56576AFC-E190-4497-ADAF-6014CC8C3CEA
Q37356651-56576AFC-E190-4497-ADAF-6014CC8C3CEA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37356651-56576AFC-E190-4497-ADAF-6014CC8C3CEA
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.
P2860
Q37356651-56576AFC-E190-4497-ADAF-6014CC8C3CEA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37356651-56576AFC-E190-4497-ADAF-6014CC8C3CEA
rank
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wasDerivedFrom
84fe475bd4c0e41301dfb02aa4adbba0676e820d
P2860
Mitochondrial DNA disease-molecular insights and potential routes to a cure