ArticleJournal of medical genetics2021
De novo missense variants in
Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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
7 citing papers in PubMed, 6 citations in OpenAlex.
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Macrophage-mediated antibiotic evasion and competitive dominance of mcr-3-carrying Escherichia coli.PLoS pathogens · 2026Article
- Rigorous genetic diagnosis review in natural history studies.Orphanet journal of rare diseases · 2026Article
- High-value valorization ofFrontiers in veterinary science · 2025Article
- KTED: a comprehensive web-based database for transposable elements in the Korean genome.Bioinformatics advances · 2024Article
- Genome-wide association study of population-standardised cognitive performance phenotypes in a rural South African community.Communications biology · 2023Article
- Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.Genome medicine · 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
31 authors at 18 institutions in 12 countries.
Funding
Abstract
objectiveTo determine the potential disease association between variants in
methodsHere we describe a series of de novo missense variants in
results
conclusionThese findings indicate that rare de novo variants in
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.