ArticleFrontiers in genetics2019
A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease.
Article in Frontiers in genetics, 2019. 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- TSC complex decrease the expression of mTOR by regulated miR-199b-3p.Scientific reports · 2025Article
- Article
- Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.International journal of molecular sciences · 2022Article
- Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.Journal of personalized medicine · 2022Article
- Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.Molecular genetics & genomic medicine · 2022Article
- A novel pathogenic splice site variation in STK11 gene results in Peutz-Jeghers syndrome.Molecular genetics & genomic medicine · 2021Article
- Unexplored regulatory sequences of divergently pairedExperimental and therapeutic medicine · 2021Article
- Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.Molecular genetics & genomic medicine · 2020Article
- A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family.Molecular genetics & genomic medicine · 2020Article
- Fabry disease screening in high-risk populations in Japan: a nationwide study.Orphanet journal of rare diseases · 2020Article
- Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.Molecular genetics & genomic medicine · 2020Article
- Functional evaluation of a novel GLA causative mutation in Fabry disease.Molecular genetics & genomic medicine · 2019Article
- NovelFrontiers in genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease (FD) is a rare X-linked α-galactosidase A (
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.