A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy
Rapaccini, Valentina, Esposito, Susanna, Strinati, Francesco, Allegretti, Mariella, Manfroi, Elisabetta, Miconi, Francesco, Pitzianti, Mariabernarda, Prontera, Paolo, Principi, Nicola, Pasini, Augusto
Published in International journal of molecular sciences (06.07.2018)
Published in International journal of molecular sciences (06.07.2018)
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Journal Article
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants
Ferese, Rosangela, Campopiano, Rosa, Scala, Simona, D’Alessio, Carmelo, Storto, Marianna, Buttari, Fabio, Centonze, Diego, Logroscino, Giancarlo, Zecca, Chiara, Zampatti, Stefania, Fornai, Francesco, Cianci, Vittoria, Manfroi, Elisabetta, Giardina, Emiliano, Magnani, Mauro, Suppa, Antonio, Novelli, Giuseppe, Gambardella, Stefano
Published in Frontiers in genetics (19.07.2021)
Published in Frontiers in genetics (19.07.2021)
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Journal Article
A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy
Rapaccini, Valentina, Esposito, Susanna, Strinati, Francesco, Allegretti, Mariella, Manfroi, Elisabetta, Miconi, Francesco, Pitzianti, Mariabernarda, Prontera, Paolo, Principi, Nicola, Pasini, Augusto
Published in International journal of molecular sciences (06.07.2018)
Published in International journal of molecular sciences (06.07.2018)
Get full text
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