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Fig. 1 | Human Genomics

Fig. 1

From: Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients

Fig. 1

Sequences (reverse complement) of the six novel genetic variants in NOTCH3 identified by NGS. The figure shows the six heterozygous exonic point variants: a p.D139V in exon 4, b p.C597W in exon 11, c p.R607H in exon 11, d synonymous variant p.E813E in exon 16, e p.C977G in exon 18 and f p.Y1106C in exon 20 identified in this study. Only bases non-concordant with consensus sequence are displayed in the target reads with the integrative genomics viewer IGV [12]. The normal nucleotide and protein sequences are depicted at the bottom and top of the figure

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Human Genomics

ISSN: 1479-7364