ArticlePharmacogenomics and personalized medicine2022
Novel Compound Heterozygous Variants in
Article in Pharmacogenomics and personalized medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed, 12 citations in OpenAlex.
- A homozygous splicing mutation in CCDC39 caused multiple morphological abnormalities of the flagella in an infertile man with primary ciliary dyskinesia.Asian journal of andrology · 2026Article
- A novel homozygous frameshift mutation in theFrontiers in medicine · 2026Article
- Genetic and Epigenetic Risks of Male Infertility in ART.International journal of molecular sciences · 2025Review
- Function of manchette and intra-manchette transport in spermatogenesis and male fertility.Cell communication and signaling : CCS · 2025Review
- Review
- Article
- Biallelic Variants inCells · 2024Article
- CCDC146 is required for sperm flagellum biogenesis and male fertility in mice.Cellular and molecular life sciences : CMLS · 2023Article
- Pathogenic gene variants inFrontiers in genetics · 2023Article
- Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility.Molecular genetics & genomic medicine · 2022Article
- LRRC46 Accumulates at the Midpiece of Sperm Flagella and Is Essential for Spermiogenesis and Male Fertility in Mouse.International journal of molecular sciences · 2022Article
- Case Report: Whole-Exome Sequencing-Based Copy Number Variation Analysis Identified a NovelFrontiers in genetics · 2022Article
- Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature.Frontiers in genetics · 2022Review
- Case Report:Frontiers in genetics · 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
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is a rare genetic disease caused by mutations of genes coding motile-cilia-related proteins.
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.