39 citations
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April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
35 citations
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April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
5 citations
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May 2022 in “Diagnostics” This study found that certain lncRNA gene polymorphisms in HOTAIR and MALAT1 are associated with increased susceptibility to systemic lupus erythematosus, potentially informing clinical applications.
5 citations
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March 2022 in “Clinical Cosmetic and Investigational Dermatology” This study proposed a model that accurately predicts skin condition using genotype information and machine learning, suggesting potential for creating customized cosmetics.
5 citations
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July 2019 in “Applied statistics/Journal of the Royal Statistical Society. Series C, Applied statistics” In this study, applying case-only trees and random forests to a prostate cancer prevention trial revealed genotypes that may influence the efficacy of finasteride for prostate cancer prevention.