ArticleHuman mutation2026
Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study.
Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteogenesis imperfecta (OI) is a heterogeneous group of genetic skeletal disorders characterized by bone fragility and low bone mass, manifesting as multiple fractures and deformities of the spine and extremities. Although genotype-phenotype correlations have been studied in various populations, large-scale data in Koreans have been lacking. This study is aimed at characterizing the clinical and genetic spectrum of nonlethal OI in the Korean population and explore genotype-phenotype associations. This retrospective cohort study analyzed 198 genetically confirmed Korean OI probands evaluated at a single center between 2004 and 2024, with clinical features reviewed and genetic testing performed using Sanger sequencing and targeted next-generation sequencing. A total of 160 distinct pathogenic variants were identified, including 44 novel variants. Variant pathogenicity was assessed according to the ACMG/AMP variant classification guidelines. Pathogenic variants of
Indexed as
Identifiers
What Socratic 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 Socratic graph.