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J-GLOBAL ID:201702258431335888   Reference number:17A0283796

The p.S178L mutation in TBC1D24 lead to dominant, non-syndromic hearing impairment through a gain-of-function mechanism

TBC1D24のp.S178L変異が機能獲得機構によりドミナント非症候群性難聴をもたらす
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Material:
Volume: 61st(Web)  Page: ROMBUNNO.Tue(3)-O23-3 (WEB ONLY)  Publication year: 2016 
JST Material Number: L1204A  Document type: Proceedings
Article type: 短報  Country of issue: Japan (JPN)  Language: ENGLISH (EN)
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Genetic variation  ,  Congenital diseases,deformities in general.  ,  Basic otorhinolaryngology 
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