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Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.
Front Genet. 2021 Jul 19;12:682050. doi: 10.3389/fgene.2021.682050. eCollection 2021.
Front Genet. 2021.
PMID: 34354735
Free PMC article.
A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy.
Rapaccini V, Esposito S, Strinati F, Allegretti M, Manfroi E, Miconi F, Pitzianti M, Prontera P, Principi N, Pasini A.
Rapaccini V, et al. Among authors: manfroi e.
Int J Mol Sci. 2018 Jul 6;19(7):1976. doi: 10.3390/ijms19071976.
Int J Mol Sci. 2018.
PMID: 29986434
Free PMC article.
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