ArticleKidney international reports2025
Functional Testing of Human Disease Missense Variants in
Article in Kidney international reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Caffeine extends lifespan by enhancing lysosomal lipolysis in Caenorhabditis elegans.Molecules and cells · 2026Article
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6 authors.
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Abstract
Introduction: Missense variants introduce single amino acid substitutions into proteins that might affect their functions and cause genetic diseases, including kidney disease. The clinical significance of most missense variants in human genes is difficult to determine. We investigated the functional effects of missense variants in highly homologous protein orthologs in humans and the nematode Methods: Ortholog analysis was performed to investigate the utility of Results: Approximately 250 ortholog pairs were genes reported to be linked to human genetic diseases and approximately half of documented human variants in these genes were missense variants whose clinical significance remains largely undetermined. We chose to characterize undetermined missense variants in Conclusion: Our findings provide insights into human genetic disease-associated missense variants and demonstrate that
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