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Q47298333-A99E8210-558F-4A92-A538-5E4492E17930
Q47298333-A99E8210-558F-4A92-A538-5E4492E17930
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http://www.wikidata.org/entity/statement/Q47298333-A99E8210-558F-4A92-A538-5E4492E17930
An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.
P2860
Q47298333-A99E8210-558F-4A92-A538-5E4492E17930
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47298333-A99E8210-558F-4A92-A538-5E4492E17930
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21ee285db0191b148b10e9bb8276fcfac39531b9
P2860
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?