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Q37704828-327ADECF-6F6A-43AB-A247-B4A0A9138E56
Q37704828-327ADECF-6F6A-43AB-A247-B4A0A9138E56
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http://www.wikidata.org/entity/statement/Q37704828-327ADECF-6F6A-43AB-A247-B4A0A9138E56
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.
P2860
Q37704828-327ADECF-6F6A-43AB-A247-B4A0A9138E56
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37704828-327ADECF-6F6A-43AB-A247-B4A0A9138E56
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wasDerivedFrom
d7875f6ce8754789b345e6438bb0d08e91baface
P2860
Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration