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  Indian J Med Microbiol
 

Figure 2: The Integrative Genomics Viewer and chromatogram views of the variation of case 1. (a) Excerpt of next-generation sequencing data visualized with integrative genomic viewer showing homozygous missense variation in exon 7 of the extracellular matrix protein 1. (b) Sequence chromatogram and alignment to the reference sequence showing the variation in exon 7 of the extracellular matrix protein 1 gene (chr1:150483999T>C; c. 856T>C) of the index child, and heterozygous carrier mother (c), and father (d) indicated by red arrow

Figure 2: The Integrative Genomics Viewer and chromatogram views of the variation of case 1. (a) Excerpt of next-generation sequencing data visualized with integrative genomic viewer showing homozygous missense variation in exon 7 of the extracellular matrix protein 1. (b) Sequence chromatogram and alignment to the reference sequence showing the variation in exon 7 of the extracellular matrix protein 1 gene (chr1:150483999T>C; c. 856T>C) of the index child, and heterozygous carrier mother (c), and father (d) indicated by red arrow