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  Indian J Med Microbiol
 

Figure 5: Integrative Genomics Viewer and chromatogram views of the variation of case 4. (a) Excerpt of next-generation sequencing data visualized with the Integrative Genomics Viewer showing homozygous nonsense variation in exon 8 of the extracellular matrix protein 1 gene. (b) Sequence chromatogram and alignment to the reference sequence showing the variation in exon 8 of the extracellular matrix protein 1 gene (chr1:150484990C>T; c. 1327C>T) of the index child, and heterozygous carrier mother (c), and father (d) indicated by red arrow

Figure 5: Integrative Genomics Viewer and chromatogram views of the variation of case 4. (a) Excerpt of next-generation sequencing data visualized with the Integrative Genomics Viewer showing homozygous nonsense variation in exon 8 of the extracellular matrix protein 1 gene. (b) Sequence chromatogram and alignment to the reference sequence showing the variation in exon 8 of the extracellular matrix protein 1 gene (chr1:150484990C>T; c. 1327C>T) of the index child, and heterozygous carrier mother (c), and father (d) indicated by red arrow