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Q28264093-9BB745AE-E2FF-43BE-A0C4-BFB7DE79453A
Q28264093-9BB745AE-E2FF-43BE-A0C4-BFB7DE79453A
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http://www.wikidata.org/entity/statement/Q28264093-9BB745AE-E2FF-43BE-A0C4-BFB7DE79453A
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency
P2860
Q28264093-9BB745AE-E2FF-43BE-A0C4-BFB7DE79453A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28264093-9BB745AE-E2FF-43BE-A0C4-BFB7DE79453A
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wasDerivedFrom
e77ad4e33b6d9044c52d3c670affba2a600f623a
P2860
Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts.