ArticleFrontiers in pediatrics2022
First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy.
Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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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
2 citing papers in PubMed, 2 citations in OpenAlex.
- Knowledge graph visualization and retrospective analysis of genetic research on pediatric cardiomyopathy (2000-2024).Frontiers in cardiovascular medicine · 2026Article
- Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.Orphanet journal of rare diseases · 2024Article
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Authors and funding
17 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: The precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in Methods: Muscle-derived reverse transcription-polymerase chain reaction analysis and/or TA cloning of Results: In patients F1-II1 and F1-II2, we identified two novel pathogenic compound heterozygous variants in Conclusion: This is the first identification of rare exonic and DISVs in the
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Registered trials
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