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Literature DB >> 29795473

Reply to "Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype" by Nuovo et al.

Hanno J Bolz^1,2.

Abstract

Entities: Gene Mutation

Mesh：

Substances：

Year: 2018 PMID： 29795473 PMCID： PMC6018714 DOI： 10.1038/s41431-018-0162-y

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

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1. Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.

Authors: Sara Nuovo; Alessia Micalizzi; Stefano D'Arrigo; Monia Ginevrino; Tommaso Biagini; Tommaso Mazza; Enza Maria Valente
Journal: Eur J Hum Genet Date: 2018-05-25 Impact factor: 4.246

1 in total