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Fig. 1 | Human Genomics

Fig. 1

From: Toward a clinical diagnostic pipeline for SPINK1 intronic variants

Fig. 1

Results from the cell culture-based full-length gene assay. a, b RT-PCR analyses of HEK293T cells transfected with full-length SPINK1 gene expression constructs carrying respectively the wild-type and indicated intronic variants. Normal transcripts (confirmed by sequencing) are indicated by arrows. In b, the lower bands generated by c.194 + 2 T > C and c.194 + 5G > A were found to be identical by sequencing, with exon 3 being skipped. See Fig. 2 for the precise splicing outcomes of the three recently reported SPINK1 splice site variants

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Human Genomics

ISSN: 1479-7364