FIGURE
Fig. 1
- ID
- ZDB-FIG-220630-36
- Publication
- Reurink et al., 2022 - Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant
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Fig. 1
Minigene splice assays for variants c.2256 C > T and c.2276 G > T.
a A minigene splice assay was performed with a construct spanning from USH2A intron 11 to intron 13 (6,814 nt), containing either c.2276 G > T or both variants (c.[2256 T > C;2276 G > T]). b A single RT-PCR product of 1112 nt was observed after expression of both splice vectors, indicative of the incorporation of USH2A exons 12 and 13 between RHO exons 3 and 5 in both transcripts. c Sanger sequencing confirmed that USH2A exon 12 and exon 13 were correctly incorporated in the mRNA. |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
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Full text @ NPJ Genom Med