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Q30830965-1DBB8282-19FA-44F0-8BC4-9A70DD7ACB45
Q30830965-1DBB8282-19FA-44F0-8BC4-9A70DD7ACB45
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30830965-1DBB8282-19FA-44F0-8BC4-9A70DD7ACB45
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
P2860
Q30830965-1DBB8282-19FA-44F0-8BC4-9A70DD7ACB45
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30830965-1DBB8282-19FA-44F0-8BC4-9A70DD7ACB45
rank
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type
BestRank
Statement
wasDerivedFrom
2539fef58c9ec33de40a56706cdce33bf7935e76
P2860
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia