ArticleFrontiers in genetics2020
Splicing Characterization of
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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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.
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Who cites it
14 citing papers in PubMed, 22 citations in OpenAlex.
- Description of the novel variant c.784delG;p. (Ala262Profs*68) atBiomedical reports · 2026Article
- Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.The Journal of clinical endocrinology and metabolism · 2025Article
- Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation.Molecular genetics and metabolism reports · 2024Article
- Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.Hepatology international · 2024Article
- Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.BMC genomics · 2023Article
- A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease.Journal of clinical medicine · 2023Article
- Case report: Expansion of phenotypic and genotypic data inFrontiers in pediatrics · 2023Article
- The Spectrum ofFrontiers in genetics · 2022Article
- Case Report: A Novel Non-Canonical Splice Site Variant (c.1638+7T>C) inFrontiers in pediatrics · 2022Article
- Twelve exonic variants in theFrontiers in genetics · 2022Article
- Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report.BMC pediatrics · 2021Article
- Bartter's syndrome: clinical findings, genetic causes and therapeutic approach.World journal of pediatrics : WJP · 2021Review
- A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1.BMC pediatrics · 2020Article
- Six Exonic Variants in theFrontiers in genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveType III Bartter syndrome (BS) is caused by loss-of-function mutations in the gene encoding basolateral chloride channel ClC-Kb (
methodsThe genomic DNA of the four patients was screened for gene variations using whole-exome sequencing (WES). The candidate variants were validated by direct Sanger sequencing. Quantitative PCR (qPCR) was subsequently performed to confirm the whole
resultsOur patients showed early onset age with hyponatremia, hypokalemia, hypochloremia, repeated vomiting and growth retardation, suggesting Bartter syndrome. Genetic analysis revealed that all patients carried compound heterozygous or homozygous truncating variants in the
conclusionOur results support that the whole
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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.