Journal
NATURE REVIEWS GENETICS
Volume 5, Issue 5, Pages 389-U2Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg1327
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Funding
- Telethon [GGP02453] Funding Source: Medline
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When genome variants are identified in genomic DNA, especially during routine analysis of disease-associated genes, their functional implications might not be immediately evident. Distinguishing between a genomic variant that changes the phenotype and one that does not is a difficult task. An increasing amount of evidence indicates that genomic variants in both coding and non-coding sequences can have unexpected deleterious effects on the splicing of the gene transcript. So how can benign polymorphisms be distinguished from disease-associated splicing mutations?
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