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Q35689799-C23C7D67-CD92-4CFF-AF06-608C546E227A
Q35689799-C23C7D67-CD92-4CFF-AF06-608C546E227A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35689799-C23C7D67-CD92-4CFF-AF06-608C546E227A
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
P2860
Q35689799-C23C7D67-CD92-4CFF-AF06-608C546E227A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35689799-C23C7D67-CD92-4CFF-AF06-608C546E227A
rank
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Statement
wasDerivedFrom
b92df3fd4fb2aa4706aa87c32e7ecad682197f9b
P2860
A general framework for estimating the relative pathogenicity of human genetic variants