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Q30584522-9727FED8-A23D-4573-BDDF-C9B71BE628CD
Q30584522-9727FED8-A23D-4573-BDDF-C9B71BE628CD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30584522-9727FED8-A23D-4573-BDDF-C9B71BE628CD
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency
P2860
Q30584522-9727FED8-A23D-4573-BDDF-C9B71BE628CD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30584522-9727FED8-A23D-4573-BDDF-C9B71BE628CD
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wasDerivedFrom
9958250f4459f7c2e4ec8b35f868b102e9c0acbc
P2860
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.