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Q37704828-C79FD4E0-AAAA-4E5C-A54B-D8203E3C513F
Q37704828-C79FD4E0-AAAA-4E5C-A54B-D8203E3C513F
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http://www.wikidata.org/entity/statement/Q37704828-C79FD4E0-AAAA-4E5C-A54B-D8203E3C513F
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.
P2860
Q37704828-C79FD4E0-AAAA-4E5C-A54B-D8203E3C513F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37704828-C79FD4E0-AAAA-4E5C-A54B-D8203E3C513F
rank
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wasDerivedFrom
d7875f6ce8754789b345e6438bb0d08e91baface
P2860
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews