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Q47209697-96AEDCE9-E2E8-4485-B8EE-27049F67136F
Q47209697-96AEDCE9-E2E8-4485-B8EE-27049F67136F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47209697-96AEDCE9-E2E8-4485-B8EE-27049F67136F
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
P2860
Q47209697-96AEDCE9-E2E8-4485-B8EE-27049F67136F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47209697-96AEDCE9-E2E8-4485-B8EE-27049F67136F
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Statement
wasDerivedFrom
f1565a7a40195d362e736fe61c4c4edc957a2a80
P2860
Expression of expanded CAG transcripts triggers nucleolar stress in Huntington's disease.