ArticlePharmacogenomics and personalized medicine2021
Identification of Two Novel
Article in Pharmacogenomics and personalized medicine, 2021. 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, 11 citations in OpenAlex.
- Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis.Frontiers in pharmacology · 2025Article
- Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.BMC pediatrics · 2023Article
- Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia.Asian journal of andrology · 2023Article
- ADGB variants cause asthenozoospermia and male infertility.Human genetics · 2023Article
- The impact of primary ciliary dyskinesia on female and male fertility: a narrative review.Human reproduction update · 2023Review
- Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility.Journal of assisted reproduction and genetics · 2023Article
- Case Report:Frontiers in genetics · 2022Article
- Turning the Curve Into Straight: Phenogenetics of the Spine Morphology and Coordinate Maintenance in the Zebrafish.Frontiers in cell and developmental biology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDynein axonemal assembly factor 2 ( MATERIALS AND
methodsWe recruited patients from two consanguineous families with a clinical diagnosis of PCD and collected their clinical history, laboratory tests, and radiographic data. Sequencing and bioinformatics analysis were then performed. Immunofluorescence and high-speed microscope analysis were used to support the pathogenicity of the variant.
resultsProband 1, a 26-year-old female from family I, exhibited scoliosis, bronchiectasis, sinusitis, situs inversus, and infertility. We found a novel homozygous missense variant in
conclusionOur findings expand the spectrum of
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.