ArticleFrontiers in genetics2020
Six Exonic Variants in the
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 9 papers.
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Who cites it
9 citing papers in PubMed, 32 citations in OpenAlex.
- Molecular genetics of Dupuytren's contracture.EFORT open reviews · 2024Review
- 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
- Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay.BMC genomics · 2023Article
- Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome.Molecular genetics & genomic medicine · 2023Article
- Twelve exonic variants in theFrontiers in genetics · 2022Article
- A Novel Mutation c.3392G>T ofFrontiers in genetics · 2022Article
- Identification of Four NovelFrontiers in genetics · 2022Article
- Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families.BMC medical genomics · 2021Article
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFamilial renal glucosuria is a rare renal tubular disorder caused by
methodsWe used bioinformatics programs to analyze 77 previously described presumed
resultsOur study indicated six of 7 candidate variants induced splicing alterations. Variants c.216C > A, c.294C > A, c.886G > C, c.932A > G and c.962A > G may disrupt splicing enhancer motifs and generate splicing silencer sequences resulting in the skipping of exon 3. Variants c.305C > T and c.1129G > A probably disturb splice sites leading to exon skipping.
conclusionTo our knowledge, we report, for the first time,
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Registered trials
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