ArticleFrontiers in cell and developmental biology2021
Novel Truncating and Missense Variants in
Article in Frontiers in cell and developmental biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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
10 citing papers in PubMed, 15 citations in OpenAlex.
- Identification and functional analysis of a novelFrontiers in genetics · 2026Article
- Molecular Screening Reveals De Novo Loss-of-FunctionInternational journal of molecular sciences · 2025Article
- Semaphorin 6 Family-An Important Yet Overlooked Group of Signaling Proteins Involved in Cancerogenesis.Cancers · 2023Review
- Prioritization and functional validation of target genes from single-cell transcriptomics studies.Communications biology · 2023Article
- Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.Epilepsia open · 2023Article
- A novelFrontiers in genetics · 2023Article
- SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.Human molecular genetics · 2022Article
- Clinical Study of 8 Cases ofFrontiers in cell and developmental biology · 2022Article
- Two novel heterozygous truncating variants inFrontiers in neuroscience · 2022Article
- Non-convulsive Status Epilepticus inFrontiers in pediatrics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Progressive myoclonic epilepsy (PME) is a rare neurodegenerative disease, characterized by myoclonic seizures and tonic clonic seizures, with genetical and phenotypical heterogeneity. The semaphorin 6B (
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.