Article

Biochemical Pathways Represented by Gene Ontology Causal Activity Models Identify Distinct Phenotypes Resulting from Mutations in Pathways

2023-05-24

Abstract excerpt

Gene inactivation can affect the process(es) in which that gene acts and causally downstream ones, yielding diverse mutant phenotypes. Identifying the genetic pathways resulting in a given phenotype helps us understand how individual genes interact in a functional network. Computable representations of biological pathways include detailed process descriptions in the Reactome Knowledgebase, and causal activity flow...

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Literature Corpus work: 1fc9b96d-7901-5eb2-bfa1-edb2eb3ed9de
DOI: 10.1101/2023.05.22.541760

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