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Q30355794-1079467C-72C8-48B6-91F3-C04BCA7A6F32
Q30355794-1079467C-72C8-48B6-91F3-C04BCA7A6F32
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Statement
http://www.wikidata.org/entity/statement/Q30355794-1079467C-72C8-48B6-91F3-C04BCA7A6F32
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.
P2860
Q30355794-1079467C-72C8-48B6-91F3-C04BCA7A6F32
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30355794-1079467C-72C8-48B6-91F3-C04BCA7A6F32
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type
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wasDerivedFrom
0d263d7f041aa880ebdbe01cd6125f8fe48df0e7
P2860
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.