ArticleFrontiers in genetics2021
Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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
13 citing papers in PubMed, 10 citations in OpenAlex.
- Article
- Extending the global landscape of Bruck syndrome: Case series of Indonesian and Ukrainian patients with PLOD2 pathogenic variants and literature review.Bone reports · 2026Article
- Significant improvement following intravenous zoledronate therapy in Bruck syndrome 2 due to a rareJCEM case reports · 2026Article
- Clinical Variability Within theGenes · 2026Article
- Article
- Identification of novel variations in three cases with rare inherited neuromuscular disorder.Experimental and therapeutic medicine · 2024Article
- A novel compound heterozygous variation in theHeliyon · 2024Article
- Genetic variations in theFrontiers in genetics · 2023Article
- Arthrogryposis multiplex congenita in a child with congenital fractures: a case report.Journal of medical case reports · 2022Article
- Prenatal Cases Reflect the Complexity of theGenes · 2022Article
- Genetic analysis of seven pateints with Hereditary Multiple Osteochondromas (HMO).American journal of translational research · 2022Article
- Whole exome sequencing facilitated the diagnosis in four Chinese pediatric cases of Joubert syndrome related disorders.American journal of translational research · 2022Article
- Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused byFrontiers in pediatrics · 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
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bruck Syndrome (BRKS) is a rare type of recessive osteogenesis imperfecta (OI) and consists of two subtypes, BRKS1 and BRKS2, which are caused by variations in
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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.