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Q37704828-BCA7D1A7-9468-4355-A86F-728E5CE121C4
Q37704828-BCA7D1A7-9468-4355-A86F-728E5CE121C4
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http://www.wikidata.org/entity/statement/Q37704828-BCA7D1A7-9468-4355-A86F-728E5CE121C4
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.
P2860
Q37704828-BCA7D1A7-9468-4355-A86F-728E5CE121C4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37704828-BCA7D1A7-9468-4355-A86F-728E5CE121C4
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type
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Statement
wasDerivedFrom
d7875f6ce8754789b345e6438bb0d08e91baface
P2860
Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.