ArticleFrontiers in neurology2023
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.
Article in Frontiers in neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- Review
- IDMME and IDMDE: inducible CRISPR-dCasRx platforms for spatiotemporal RNA mGenome biology · 2026Article
- Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani Families.Biochemical genetics · 2026Article
- Epitranscriptomic mechanisms and implications of RNA mTheranostics · 2025Review
- Prevalence-pattern of congenital and hereditary anomalies in Balochistan Province of Pakistan.Pakistan journal of medical sciences · 2024Article
- A novel variant in NSUN2 causes intellectual disability in a Chinese family.BMC medical genomics · 2024Article
- Article
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Authors and funding
15 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Intellectual disability (ID) is a clinically and genetically heterogeneous disorder. It drastically affects the learning capabilities of patients and eventually reduces their IQ level below 70. Methods: The current genetic study ascertained two consanguineous Pakistani families suffering from autosomal recessive intellectual developmental disorder-5 (MRT5). We have used exome sequencing followed by Sanger sequencing to identify the disease-causing variants. Results and discussion: Genetic analysis using whole exome sequencing in these families identified two novel mutations in the
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