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. 2018 Aug 29;18:286. doi: 10.1186/s12887-018-1259-8

Fig. 2.

Fig. 2

Sequencing results. a IGV browser visualization of the targeted NGS sequencing results showing the heterozygous c.788 T > G substitution in the RAF1 gene in the patient, (reverse sequence) which is absent in another NS patient (used as a control); b Sanger sequencing confirming the de novo appearance of the mutation in the patient, given its absence in the parents’ DNA samples