ArticleJournal of clinical medicine2019
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic
Article in Journal of clinical medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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
25 citing papers in PubMed, 31 citations in OpenAlex.
- Biallelic variants inResearch square · 2026Article
- Type I Interferonopathies: Fifteen Years On, From Concept to Therapeutic Perspectives.Current rheumatology reports · 2026Review
- Characterization of Mitochondrial Double-Stranded RNA Levels in Non-Small Cell Lung Carcinoma.Cancer research communications · 2026Article
- The impact of macrophage metabolism on idiopathic pulmonary fibrosis development and treatment prospectives.Frontiers in immunology · 2026Review
- Human polynucleotide phosphorylase in mitochondrial RNA metabolism.Bioscience reports · 2025Review
- A novel polyribonucleotide nucleotidyltransferase 1 (Translational pediatrics · 2025Article
- RNA sensing at the crossroads of autoimmunity and autoinflammation.RNA (New York, N.Y.) · 2025Review
- Structural insights into human PNPase in health and disease.Nucleic acids research · 2025Article
- Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.European journal of neurology · 2025Article
- Pathological PNPase variants with altered RNA binding and degradation activity affect the phenotype of bacterial and human cell models.NAR molecular medicine · 2025Article
- Bioinformatics-driven exploration of key genes and mechanisms underlying oxidative stress in traumatic brain injury.Frontiers in aging neuroscience · 2025Article
- Unravelling Heterogeneity: A Rare PNPT1 Variant in Childhood-Onset Spinocerebellar Ataxia with Sensorineural Hearing Loss.Cerebellum (London, England) · 2024Article
- CNS disease associated with enhanced type I interferon signalling.The Lancet. Neurology · 2024Review
- Nucleotide metabolism, leukodystrophies, and CNS pathology.Journal of inherited metabolic disease · 2024Review
- Trafficking of mitochondrial double-stranded RNA from mitochondria to the cytosol.Life science alliance · 2024Article
- Molecular and cellular consequences of mitochondrial DNA double-stranded breaks.Human molecular genetics · 2024Review
- Article
- Human PNPase causes RNA stabilization and accumulation of R-loops in the Escherichia coli model system.Scientific reports · 2023Article
- Mitochondrial control of innate immune responses.Frontiers in immunology · 2023Review
- Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.Journal of medical genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 8 institutions in 2 countries.
Funding
Abstract
PubMed holds no abstract for this paper.
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.