ArticleInternational journal of general medicine2025
A Case Study Identified a New Mutation in the
Article in International journal of general medicine, 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.
- Case Report: Genomic and clinical insights into MYBPC3-related hypertrophic cardiomyopathy in Ecuadorian patients: implications for sudden cardiac death risk.Frontiers in cardiovascular medicine · 2025Article
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4 authors.
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Abstract
Background: Hypertrophic cardiomyopathy (HCM) is the most common hereditary cardiomyopathy, with variable pathogenesis, clinical presentation, and prognosis. Although mutations in genes encoding sarcomere proteins have been reported to explain the genetic etiology of 40%-60% of HCM patients, the etiology of approximately 1/3 of HCM patients remains unknown. Whole-exome sequencing (WES) is an effective method for identifying the genes that cause genetic diseases. In the present study, WES and systematic genetic screening were performed to determine the genetic causes of HCM in Chinese HCM family. Materials and Methods: Peripheral blood genomic DNA was collected from 9 family members of a Chinese Han HCM pedigree, including an HCM proband. Candidate variants obtained by WES were verified using Sanger sequencing, pathogenic mutation screening was conducted among family members, and the mutations were systematically analyzed using bioinformatics. Results: WES revealed a novel heterozygous missense mutation, c.20233 C>T (p.R6745C), located in exon 80 of the HCM-related gene Conclusion: In this study, a new pathogenic mutation of
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