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Figure 1 | Genome Medicine

Figure 1

From: Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

Figure 1

The loss-of-function mutations within RBCK1 in two families. (a,b) Pedigree structure for the two families, respectively. (c) Genome browser shots illustrating the location of the mutations within RBCK1. Multiple zooming levels are shown from the chromosome to the gene structure, and then to three exons harboring the mutations.

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