Fig. 2 | Journal of Human Genetics

Fig. 2

From: Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

Fig. 2

A Schematic representation showing ~72 kb indel variant upstream of SNX10. Screen capture of the BAM files analysis using the Integrative Genomics Viewer for the SNX10 indel (g.26263639_26335651delinsCA) was found in the proband (B) Sanger chromatogram showing homozygous deletion and insertion of two nucleotides in the proband. parents are carriers of the identified variant

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