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Q48903075-C07D093D-67FB-4FB0-8C08-94065D4F4711
Q48903075-C07D093D-67FB-4FB0-8C08-94065D4F4711
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http://www.wikidata.org/entity/statement/Q48903075-C07D093D-67FB-4FB0-8C08-94065D4F4711
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
P2860
Q48903075-C07D093D-67FB-4FB0-8C08-94065D4F4711
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48903075-C07D093D-67FB-4FB0-8C08-94065D4F4711
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wasDerivedFrom
51f999c095fab4945adc0764c52e1cbe2314a5ea
P2860
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.