ArticleScientific reports2016
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria.
Article in Scientific reports, 2016. 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
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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.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.Molecular genetics & genomic medicine · 2024Article
- Three exonic variants in theFrontiers in genetics · 2024Article
- Twelve exonic variants in theFrontiers in genetics · 2022Article
- Human Glucose Transporters in Renal Glucose Homeostasis.International journal of molecular sciences · 2021Review
- Common variation at 16p11.2 is associated with glycosuria in pregnancy: findings from a genome-wide association study in European women.Human molecular genetics · 2020Article
- Review
- SLC5A2 mutations, including two novel mutations, responsible for renal glucosuria in Chinese families.BMC nephrology · 2020Article
- Six Exonic Variants in theFrontiers in genetics · 2020Article
- Tubular Deficiency of Heterogeneous Nuclear Ribonucleoprotein F Elevates Systolic Blood Pressure and Induces Glycosuria in Mice.Scientific reports · 2019Article
- Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.Endocrine · 2019Article
- A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature.Molecular medicine reports · 2019Review
- Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature.European journal of human genetics : EJHG · 2018Article
- An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A.Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis · 2018Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial renal glycosuria (FRG) is caused by mutations in the SLC5A2 gene, which codes for Na
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.