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Article

A quantitative model of a phenotypically variable genetic defect.

Proceedings of the National Academy of Sciences of the United States of America - 18 Aug 2026

Simpkins Alison G, Skinner Dominic J, Felix Brox, Marmion Robert A, Schottenfeld-Roames Jodi, Shvartsman Stanislav Y

Abstract excerpt

Phenotypic variability is a hallmark of human disease. It results from a combination of genetic modifiers, environment, and stochastic effects, but their contributions are hard to disentangle. Here, we establish the specification of terminal cells in the Drosophila tracheal system as a model for phenotypic variability and phenotypic emergence in Mendelian disorders. By perturbing Fibroblast growth factor (FGF)...

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Drosophila melanogaster
Drosophila Proteins
Fibroblast Growth Factors
MAP Kinase Signaling System
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 42585012
DOI: 10.1073/pnas.2619147123
PMCID: PMC13486554

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