8 Matching Annotations
  1. Nov 2025
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional analysis of a novel variant in the COL5A1 gene in a Polish patient with the classical type of Ehlers–Danlos syndrome
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    pmc.ncbi.nlm.nih.gov/articles/PMC12630569/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    U2AF1 mutations rescue deleterious exon skipping induced by KRAS mutations
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    pmc.ncbi.nlm.nih.gov/articles/PMC11974705/
  4. May 2025
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Complete omission of exon 21 from Slc12a2 transcripts in mice results in hearing loss
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    pmc.ncbi.nlm.nih.gov/articles/PMC12038040/
  6. Feb 2025
  7. www.medrxiv.org www.medrxiv.org
    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
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    medrxiv.org/content/10.1101/2025.02.18.25321172v1
  8. Sep 2024
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Alternative splicing of CARM1 regulated by LincGET-guided paraspeckles biases the first cell fate in mammalian early embryos
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    ncbi.nlm.nih.gov/pmc/articles/PMC11402786/
  10. Feb 2024
  11. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease
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    pubmed.ncbi.nlm.nih.gov/38184646/
  12. Jul 2023
  13. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A framework for individualized splice-switching oligonucleotide therapy
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    ncbi.nlm.nih.gov/pmc/articles/PMC10371869/
  14. Jun 2022
  15. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations
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    ncbi.nlm.nih.gov/pmc/articles/PMC9116610/