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

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Bibliographic Details
Published in:	European journal of human genetics : EJHG Vol. 26; no. 7; pp. 928 - 929
Main Authors:	Nuovo, Sara, Micalizzi, Alessia, D'Arrigo, Stefano, Ginevrino, Monia, Biagini, Tommaso, Mazza, Tommaso, Valente, Enza Maria
Format:	Journal Article
Language:	English
Published:	England Nature Publishing Group 01-07-2018 Springer International Publishing
Subjects:	Alleles Correspondence Mutation Phenotype Phenotypes
Online Access:	Get full text
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Description
ISSN:	1018-4813 1476-5438
DOI:	10.1038/s41431-018-0158-7