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. 2023 Jun 29;15(13):3420. doi: 10.3390/cancers15133420

Figure 4.

Figure 4

The RAD51C: c.905-2delA variant identified in the proband of HBOC family. (A) In silico splicing analysis using Alamut Visual Plus v1.7.1 (Interactive Biosoftware). (B) RT-PCR of lymphocyte-derived RNA. Electrophoresis of RT-PCR products demonstrates an additional band (604 bp), as well as the expected wild-type band (664 bp), in the proband and in the positive control (carrier of the c.965+5G>A). The density of the aberrant band is comparable to the wild-type band. (C) Electropherogram showing that the variant causes an aberrant transcript corresponding to exon 7 skipping in the patient sample (forward). The sequence of the wild-type transcript is represented in black while the sequence of the aberrant transcript is represented in red.