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Q37130439-CE5969AD-EDCC-4C1B-8105-D2609CD9B0DC
Q37130439-CE5969AD-EDCC-4C1B-8105-D2609CD9B0DC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37130439-CE5969AD-EDCC-4C1B-8105-D2609CD9B0DC
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression
P2860
Q37130439-CE5969AD-EDCC-4C1B-8105-D2609CD9B0DC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37130439-CE5969AD-EDCC-4C1B-8105-D2609CD9B0DC
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wasDerivedFrom
ac8e6296b458b41c3ced91a6c1a85ab4b192aa25
P2860
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior