ArticleFrontiers in genetics2020
Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed.
- Exome Sequencing uncovers Homozygous Stop-Gained variant in thePakistan journal of medical sciences · 2026Article
- Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in thePakistan journal of medical sciences · 2024Article
- Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant inMolecular syndromology · 2024Article
- Whole exome sequencing of a novel homozygous missense variant inBiomedical reports · 2024Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- Integrative Multi-Omics Research in Cerebral Palsy: Current Progress and Future Prospects.Neurochemical research · 2023Review
- Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme,Genes · 2023Article
- Clinical whole exome sequencing revealedSaudi journal of biological sciences · 2022Article
- Whole-Exome Sequencing Identifies NovelFrontiers in pediatrics · 2022Article
- Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C inFrontiers in pediatrics · 2022Article
- Exome sequencing reveled a compound heterozygous mutations inSaudi journal of biological sciences · 2021Article
- Investigation of a NovelFrontiers in genetics · 2021Article
- Metabolic Aspects of Adenosine Functions in the Brain.Frontiers in pharmacology · 2021Review
- Insights From Genetic Studies of Cerebral Palsy.Frontiers in neurology · 2020Review
- Whole Exome Sequencing Identifies Three Novel Mutations in theFrontiers in pediatrics · 2020Article
- A missense variant in thePakistan journal of medical sciencesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spastic paraplegias (HSPs) is a rare heterogeneous group of neurodegenerative diseases, with upper and lower limb spasticity motor neuron disintegration leading to paraplegias.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.