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Q47670946-899689B4-AD02-4A2B-95C6-E82EA7582B91
Q47670946-899689B4-AD02-4A2B-95C6-E82EA7582B91
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47670946-899689B4-AD02-4A2B-95C6-E82EA7582B91
Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.
P2860
Q47670946-899689B4-AD02-4A2B-95C6-E82EA7582B91
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47670946-899689B4-AD02-4A2B-95C6-E82EA7582B91
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type
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wasDerivedFrom
5b1b1768c4c7586607edb21cc5d961b3e3221f9b
P2860
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1