Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK...
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
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England: BioMed Central Ltd
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English
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Publisher
England: BioMed Central Ltd
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Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. In this study, we aim to harness the well-established full-length gene splicing assay (FLGSA) in conjunction with SpliceAI to prospectively interpret the splicing...
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Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
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TN_cdi_doaj_primary_oai_doaj_org_article_d02d19b436f74bb4b284a9c0563849d2
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d02d19b436f74bb4b284a9c0563849d2
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ISSN
1479-7364,1473-9542
E-ISSN
1479-7364
DOI
10.1186/s40246-024-00586-9
