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Q47209697-3C9C0B54-C839-4966-B2C3-0471F0D5CD97
Q47209697-3C9C0B54-C839-4966-B2C3-0471F0D5CD97
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47209697-3C9C0B54-C839-4966-B2C3-0471F0D5CD97
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
P2860
Q47209697-3C9C0B54-C839-4966-B2C3-0471F0D5CD97
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47209697-3C9C0B54-C839-4966-B2C3-0471F0D5CD97
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wasDerivedFrom
51ced0892b0e7ee0d31b87a2d2875aca15e00de8
P2860
Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.