ArticleFrontiers in pediatrics2023
A novel homozygous splice donor variant in the
Article in Frontiers in pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 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
3 citing papers in PubMed.
- SLIRP differentially modulates RNA binding of pathogenic LRPPRC variants.NAR molecular medicine · 2026Article
- Two Siblings withMolecular syndromology · 2026Article
- Disruption ofJournal of rare diseases (Berlin, Germany) · 2025Article
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Authors and funding
4 authors.
Funding
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Abstract
Background: The mitochondria are a cellular power house. Tissues are involved in frequent energy consumption, and any failure or irregularity in the continuous energy production could lead to abnormalities. The leucine-rich pentatricopeptide repeat ( Materials and methods: This study enrolled a family with Leigh syndrome-like phenotype. The molecular diagnosis was conducted by first performing whole exome sequencing (WES), followed by Sanger sequencing. Results: A novel splice-site variant (c.469 + 2T > A) at the exon-intron boundary in the Conclusion: To the best of our knowledge, there have been no previous reports of this variant in the
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Registered trials
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