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1. SpliceAPP: an interactive web server to predict splicing errors arising from human mutations.

2. A systematic screen identifies Saf5 as a link between splicing and transcription in fission yeast.

3. Structural insights into human exon-defined spliceosome prior to activation.

4. Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.

5. Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity.

6. A splice site variant in MADD affects hormone expression in pancreatic β cells and pituitary gonadotropes.

7. Activation of Cryptic Donor Splice Sites within the UDP-Glucuronosyltransferase (UGT)1A First-Exon Region Generates Variant Transcripts That Encode UGT1A Proteins with Truncated Aglycone-Binding Domains.

8. Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria.

9. A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts.

10. Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.

11. An alternative 3' splice site of PeuHKT1;3 improves the response to salt stress through enhancing affinity to K + in Populus.

12. Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.

13. RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant.

14. DRANetSplicer: A Splice Site Prediction Model Based on Deep Residual Attention Networks.

15. Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute to proofreading against proximal 3' splice site usage.

16. CAG repeat expansions create splicing acceptor sites and produce aberrant repeat-containing RNAs.

17. Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue.

18. Nucleotide alterations in the HLA-C class I gene can cause aberrant splicing and marked changes in RNA levels in a polymorphic context-dependent manner.

19. Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.

20. Impact on splicing in Saccharomyces cerevisiae of random 50-base sequences inserted into an intron.


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