ArticleWorld journal of clinical cases2019
Novel heterozygous missense mutation of
Article in World journal of clinical cases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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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
2 citing papers in PubMed, 3 citations in OpenAlex.
- Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report.Nephrology (Carlton, Vic.) · 2025Article
- A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress.Journal of endocrinological investigation · 2021Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo screen for possible pathogenic loci in a patient with Gitelman syndrome by high-throughput exome sequencing and to explore the relationship between genotype and phenotype. CASE SUMMARY: The clinical data of the patient were collected. Peripheral blood samples were obtained to isolate white blood cells and extract genomic DNA. High-throughput whole exome sequencing for candidate pathogenic genes in the proband was completed by the Huada Gene Technology Co. Ltd (Shenzhen, China). Sequencing showed a novel heterozygous missense mutation (a G to A transition at nucleotide 2582) in exon 22 of the
conclusionThis is the first report of a new pathogenic mutation in
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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.