ArticleInternational journal of molecular sciences2021
Novel Biallelic Variants and Phenotypic Features in Patients with
Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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
11 citing papers in PubMed, 15 citations in OpenAlex.
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Article
- Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.Documenta ophthalmologica. Advances in ophthalmology · 2024Article
- Identification of a Novel Frameshift Variant inGenes · 2024Article
- Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.The British journal of ophthalmology · 2023Article
- A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects.Investigative ophthalmology & visual science · 2023Article
- Foveal Hypoplasia inInternational journal of molecular sciences · 2023Article
- Infantile nystagmus without overt eye abnormality: Early features and neuro-ophthalmological diagnosis.Developmental medicine and child neurology · 2022Article
- Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2022Review
- Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.Genes · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 2 countries.
Funding
Abstract
Biallelic pathogenic variants in solute carrier family 38 member 8,
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.