Sanger sequencing validation and cDNA sequence analysis supporting "A Diagnostics RNA Sequencing Assay for Direct Identification and Interpretation of Pathogenic Variants in the FBN1 Gene

This dataset contains raw and Sanger sequencing data generated for the validation of genetic variants and for cDNA sequence analysis described in the associated manuscript submitted to Frontiers in Molecular Biosciences.

The dataset includes:
- Raw chromatogram files (.ab1) from forward and reverse sequencing reactions.

- qPCR raw data utilised for FBN1-Relative gene expression

- README file detailing file organization and naming.

The data were generated using standard Sanger sequencing protocols and analyzed using tools such as Chromas, and BioEdit for sequence quality assessment and consensus sequence generation.

The data are provided under an embargo until the related article is published. Access can be granted upon reasonable request during the review process.