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Phenotypic and Genotypic Analyses of Genetic Skin Disease through the Online Mendelian Inheritance in Man (OMIM) Database
Journal of Investigative Dermatology, 06/19/09
Tsao H et al. - Functional analyses among GSD loci were mapped back to skin features, providing insights into pigmentary and auditory features. Phenotypic deconvolution provides a framework for analyzing medical disorders and can aid in the organization and elucidation of biological mechanisms related to human disease.
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