Genomic variants in exons and introns: identifying the splicing spoilers

By F. Pagani, Francisco E. Baralle. Nature reviews genetics, 2004

631 citations recorded by the source corpus.

Subfields: Molecular Biology

View Paper: https://www.semanticscholar.org/paper/bc577c7759aa1c72c9e48cc578b88d0feb85e413

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Molecular Biology

1. Xin Gao
2. Ramzan Umarov
3. Benjamin J. Blencowe

Citations in the corpus

• Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics (2020, background): “These not only include single base-pair substitutions that may or may not alter the amino acid sequence (nonsynonymous and synonymous missense), but also include protein-truncating variants [13].”
• Alternative splicing: new insights from global analyses. (2006, background): “…provided valuable information Cell 126, July 14, 2006 ©2006 Elsevier Inc. 43 for improving our ability to predict which disease mutations have the potential to disrupt splicing (Cartegni et al., 2002; Fairbrother et al., 2002; Pagani and Baralle, 2004; Wang et al., 2004; Zhang and Chasin, 2004).”