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RTEL1 rare variants detected by whole-exome sequencing. (A) Modified Sanger sequencing confirmed the RTEL1 rare variants detected by whole-exome sequencing in families A–I. (B) Schematic depiction of the location of RTEL1 rare variants in the 1,219-amino-acid isoform and an alternatively spliced 1,300-amino-acid isoform. PIP = PCNA (proliferating cell nuclear antigen)-interacting protein.
