@article{article, title  = {{Splicing in the Diagnosis of Rare Disease: Advances and Challenges}},

 publisher = {{Frontiers Media SA}},

 url = {{https://doi.org/10.3389/fgene.2021.689892 }},

 year = {{2021}},

 month = {{7}},

 author = {{Lord J and Baralle D}},

 doi = {{10.3389/fgene.2021.689892}},

 volume = {{12}},

 journal = {{Frontiers in Genetics}},

 note = {{Accessed on 2026/01/25}}}