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. 2019 Jan 7;24(3):e12623. doi: 10.1111/anec.12623

Figure 4.

Figure 4

Identification of a KCNJ2 E118D variant and a novel exon3 deletion of RYR2. (a) A sequence electropherogram of KCNJ2 gene of the proband (Ⅲ‐3) (Figure 1). Nucleotide and amino acid substitutions were indicated below the electropherogram. (b) A result of targeted panel sequencing of the proband and control showing read number around exon3 of RYR2. Red and blue enclosing lines indicate read number of the proband and control, respectively. (c) Schematic representation of the position of exon3 of RYR2 (NCBI Reference Sequence NC_000001.10), deletion sites, and primers used for long‐range PCR (d). (d). Electrophoresis of long‐range PCR products. M, marker; C, control; P, proband. (e) Direct sequencings of the upper band (upper panel) and lower band (lower panel) from the proband (d).