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Q55059480-4ECAB0FF-C5CE-43CF-A5C1-6A7C8BB246E7
Q55059480-4ECAB0FF-C5CE-43CF-A5C1-6A7C8BB246E7
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Statement
http://www.wikidata.org/entity/statement/Q55059480-4ECAB0FF-C5CE-43CF-A5C1-6A7C8BB246E7
The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).
P2860
Q55059480-4ECAB0FF-C5CE-43CF-A5C1-6A7C8BB246E7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q55059480-4ECAB0FF-C5CE-43CF-A5C1-6A7C8BB246E7
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wasDerivedFrom
c9368caef6b838204771906cb2259fd20f281b4b
P2860
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.