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Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.
Nuovo, Sara; Micalizzi, Alessia; D'Arrigo, Stefano; Ginevrino, Monia; Biagini, Tommaso; Mazza, Tommaso; Valente, Enza Maria.
Affiliation
  • Nuovo S; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.
  • Micalizzi A; Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
  • D'Arrigo S; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.
  • Ginevrino M; Developmental Neurology Division, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.
  • Biagini T; Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.
  • Mazza T; Deparment of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Valente EM; Laboratory of Bioinformatics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.
Eur J Hum Genet ; 26(7): 928-929, 2018 07.
Article in En | MEDLINE | ID: mdl-29795474
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alleles / Mutation Type of study: Risk_factors_studies Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Italy Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alleles / Mutation Type of study: Risk_factors_studies Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Italy Country of publication: United kingdom