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2. Splicing in the Diagnosis of Rare Disease: Advances and Challenges.

3. BRCA1 Exon 11, a CERES (Composite Regulatory Element of Splicing) Element Involved in Splice Regulation.

5. Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

6. Low U1 snRNP dependence at the NF1 exon 29 donor splice site.

7. Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.

8. NF1 mRNA biogenesis: Effect of the genomic milieu in splicing regulation of the NF1 exon 37 region

9. RNA splicing analysis in genomic medicine.

10. MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.

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