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. 2019 Feb 15;10:50. doi: 10.3389/fgene.2019.00050

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Copyright © 2019 Micaglio, Monasky, Ciconte, Vicedomini, Conti, Mecarocci, Giannelli, Giordano, Pollina, Saviano, Crisà, Borrelli, Ghiroldi, D’Imperio, Di Resta, Benedetti, Ferrari, Santinelli, Anastasia and Pappone.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Identification of the c. 3946C > T (p.Arg1316*) nonsense mutation in the SCN5A gene and the c.7686delG (p.Ile2563fs*7) frameshift mutation in the NF1 gene. (A,B) NGS paired-end reads loaded in the IGV genome browser. The arrow indicates the position of the single nucleotide variation in SCN5A gene (A) and of the deletion in NF1 gene (B) in patients (mut) compared to a wt control sample. SCN5A gene is in the reverse orientation on the chromosome. (C,D) Sanger sequencing electropherograms confirm the presence of the variants in SCN5A (C) and NF1 (D) in patients and their absence in the wt control. In the electropherogram of NF1 gene analysis, reverse strand is reported.