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Q54765326-2C0A04D8-24A1-40DF-BF4D-CBD551791176
Q54765326-2C0A04D8-24A1-40DF-BF4D-CBD551791176
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54765326-2C0A04D8-24A1-40DF-BF4D-CBD551791176
The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
P2860
Q54765326-2C0A04D8-24A1-40DF-BF4D-CBD551791176
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54765326-2C0A04D8-24A1-40DF-BF4D-CBD551791176
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type
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wasDerivedFrom
9e97b6bd57ecb808d5e274ddb3a3b6dcccfc294c
P2860
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior