Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.
作者信息
Nuovo Sara, Micalizzi Alessia, D'Arrigo Stefano, Ginevrino Monia, Biagini Tommaso, Mazza Tommaso, Valente Enza Maria
机构信息
Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.
Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
出版信息
Eur J Hum Genet. 2018 Jul;26(7):928-929. doi: 10.1038/s41431-018-0158-7. Epub 2018 May 25.
Abstract
摘要
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Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.在SCA5和SCAR14之间：SPTBN2基因p.R480W相关表型的界定。
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Reply to "Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype" by Nuovo et al.对Nuovo等人的《SCA5与SCAR14之间：SPTBN2 p.R480W相关表型的描述》的回复
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