ArticleAmerican journal of human genetics2017
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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
8 citing papers in PubMed.
- Epigenetic regulation of craniofacial development and disease.Birth defects research · 2024Review
- Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.American journal of medical genetics. Part A · 2021Article
- Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease.Human genetics · 2021Article
- Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.BMC pediatrics · 2020Article
- Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information.Journal of visualized experiments : JoVE · 2019Article
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.The New England journal of medicine · 2018Article
- ASXL gain-of-function truncation mutants: defective and dysregulated forms of a natural ribosomal frameshifting product?Biology direct · 2017Article
- Histone H2A Monoubiquitination in Neurodevelopmental Disorders.Trends in genetics : TIG · 2017Review
Corrections and comments
- Erratum for
Authors and funding
35 authors.
Funding
Abstract
PubMed holds no abstract for this paper.
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.