CASE REPORT
Published on 04 Dec 2024
Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family
doi 10.3389/fgene.2024.1507600
- 778 views
- Frontiers in Genetics
- Human and Medical Genomics
- Research Topics
- Structural Variants, Hereditary Fusion Genes, and Diseases
Structural Variants, Hereditary Fusion Genes, and Diseases
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Articles
ORIGINAL RESEARCH
Published on 23 Oct 2024
Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach
doi 10.3389/fgene.2024.1469686
- 1,971 views
- 2 citations
ORIGINAL RESEARCH
Published on 01 Oct 2024
A statistical model to identify hereditary and epigenetic fusion genes associated with dilated cardiomyopathy
doi 10.3389/fgene.2024.1438887
- 878 views
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