Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia

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作者： Ceroni, Fabiola ^[1] ; Osborne, Daniel ^[2] ; Clokie, Samuel ^[3] ; Bax, Dorine A. ^[4] ; Cassidy, Emma J. ^[5] ; Dunn, Matt J. ^[6] ; Harris, Christopher M. ; Self, Jay E. ; Ragge, Nicola K.

作者单位： Oxford Brookes University,Oxford Brookes Univ ^[1] Fac Med,Univ Southampton ^[2] West Midlands Reg Clin Genet Serv,Birmingham Womens & Childrens Fdn Trust ^[3] Wessex Reg Genet Lab,Salisbury NHS Fdn Trust ^[4] Sch Optometry & Vis Sci,Cardiff Univ ^[5] Royal Eye Infirm,Derriford Hosp ^[6]

关键词 COPY-NUMBER VARIANTS MUTATION PHENOTYPE

发布时间 2023-09-09

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European journal of human genetics

2023年31卷3期

353-359页

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Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia

European journal of human genetics

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European journal of human genetics

相关期刊

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Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia

European journal of human genetics

相似文献

European journal of human genetics

相关期刊

检索历史清除