Article

Base-specific mutational intolerance near splice-sites clarifies role of non-essential splice nucleotides

2017-04-21

Abstract excerpt

Variation in RNA splicing (i.e., alternative splicing) plays an important role in many diseases. Variants near 5′ and 3′ splice sites often affect splicing, but the effects of these variants on splicing and disease have not been fully characterized beyond the 2 “essential” splice nucleotides flanking each exon. Here we provide quantitative measurements of tolerance to mutational disruptions by position and referen...

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Literature Corpus work: 166f65b4-ae3f-5cac-af50-fdfde3522006
DOI: 10.1101/129312

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