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Figure 2 | BMC Cancer

Figure 2

From: Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma

Figure 2

Confirmation of novel pathogenic splice variants. (A) Cosegregation of variants in the family was confirmed by Sanger sequencing of blood samples of Patient RB4, his mother and sibling, who had heterozygous c.265-9 T > A variant that created a new splice site acceptor. (B) Patient RB24 had a de novo heterozygous in-frame deletion of three bases identified at the start site of exon 20. Red arrows denote the variant.

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