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A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy
Qu, Yu-jin, Bai, Jin-li, Cao, Yan-yan, Zhang, Wen-hui, Wang, Hong, Jin, Yu-wei, Song, FangLangue:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2015.213
Date:
September, 2015
Fichier:
PDF, 1.00 MB
english, 2015