Determinants of the Usage of Splice-Associated cis-Motifs Predict the Distribution of Human Pathogenic SNPs
Where in genes do pathogenic mutations tend to occur and does this provide clues as to the possible underlying mechanisms by which single nucleotide polymorphisms (SNPs) cause disease? As splice-disrupting mutations tend to occur predominantly at exon ends, known also to be hot spots of cis-exonic s...
| Main Authors: | , |
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| Format: | Online |
| Language: | English |
| Published: |
Oxford University Press
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4866546/ |