ArticleDiagnostics (Basel, Switzerland)2020
Novel Splice Site Pathogenic Variant of
Article in Diagnostics (Basel, Switzerland), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Genotype-phenotype associations in microtia: a systematic review.Orphanet journal of rare diseases · 2024Pooled it
- Spliceosome protein EFTUD2: A potential pathogenetic factor in tumorigenesis and some developmental defects (Review).Molecular medicine reports · 2025Review
- AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.Frontiers in pediatrics · 2023Article
- Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.Scientific reports · 2022Article
- A de novo start-loss inCold Spring Harbor molecular case studies · 2022Article
- A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.Journal of clinical laboratory analysis · 2022Article
- [Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2022Review
- Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.Scientific reports · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Elongation factor Tu guanosine-5'-triphosphate (GTP) binding domain containing 2 (
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.