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Q35689799-B49FBB57-1828-495F-889F-13FF3E15BCD5
Q35689799-B49FBB57-1828-495F-889F-13FF3E15BCD5
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Statement
http://www.wikidata.org/entity/statement/Q35689799-B49FBB57-1828-495F-889F-13FF3E15BCD5
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
P2860
Q35689799-B49FBB57-1828-495F-889F-13FF3E15BCD5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35689799-B49FBB57-1828-495F-889F-13FF3E15BCD5
rank
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wasDerivedFrom
b92df3fd4fb2aa4706aa87c32e7ecad682197f9b
P2860
The C5 domain of Col6A3 is cleaved off from the Col6 fibrils immediately after secretion