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Article

The haplo-spliceo-transcriptome: common variations in alternative splicing in the human population.

Trends in genetics : TIG - 1 Jan 2008

Graveley Brenton R

Abstract excerpt

Numerous inherited human genetic disorders are caused by defects in pre-mRNA splicing. Two recent studies have added a new twist to the link between genetic variation and pre-mRNA splicing by identifying SNPs that correlate with heritable changes in alternative splicing but do not cause disease. This suggests that allele-specific alternative splicing is a mechanism that accounts for individual variation in the...

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Identifiers

PMID: 18054116
DOI: 10.1016/j.tig.2007.10.004
PMCID: PMC2372159

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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