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Article

Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis.

Science translational medicine - 10 Jun 2015

Drivas Theodore G, Wojno Adam P, Tucker Budd A, Stone Edwin M, Bennett Jean

Abstract excerpt

Genetic pleiotropy, the phenomenon by which mutations in the same gene result in markedly different disease phenotypes, has proven difficult to explain with traditional models of disease pathogenesis. We have developed a model of pleiotropic disease that explains, through the process of basal exon skipping, how different mutations in the same gene can differentially affect protein production, with the total...

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Identifiers

PMID: 26062849
DOI: 10.1126/scitranslmed.aaa5370
PMCID: PMC4486480

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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