ArticleBioscience reports2019
Identification of novel pathogenic
Article in Bioscience reports, 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
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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, 18 citations in OpenAlex.
- Article
- Identification of novel compound heterozygous variants in theFrontiers in molecular biosciences · 2023Article
- Novel compound heterozygous variants in theFrontiers in cell and developmental biology · 2023Article
- A BRCA1 Splice Site Variant Responsible for Familial Ovarian Cancer in a Han-Chinese Family.Current medical science · 2022Article
- Identification ofFrontiers in genetics · 2022Article
- Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.Journal of cellular and molecular medicine · 2021Article
- A phase I clinical trial of human embryonic stem cell-derived retinal pigment epithelial cells for early-stage Stargardt macular degeneration: 5-years' follow-up.Cell proliferation · 2021Article
- Uncurtaining the pivotal role of ABC transporters in diabetes mellitus.Environmental science and pollution research international · 2021Review
- NovelFrontiers in cardiovascular medicine · 2021Article
- NovelJournal of ophthalmology · 2021Article
- Identification of aExperimental and therapeutic medicine · 2020Article
- A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family.Journal of cellular and molecular medicine · 2020Article
- Monitoring and Management of the Patient with Stargardt Disease.Clinical optometry · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Stargardt disease (STGD1, OMIM 248200) is a common hereditary juvenile or early adult onset macular degeneration. It ultimately leads to progressive central vision loss. Here, we sought to identify gene mutations associated with STGD1 in a three-generation Han Chinese pedigree by whole exome sequencing and Sanger sequencing. Two novel potentially pathogenic variants in a compound heterozygous state, c.3607G>T (p.(Gly1203Trp)) and c.6722T>C (p.(Leu2241Pro)), in the ATP binding cassette subfamily A member 4 gene (
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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.