ArticleCold Spring Harbor molecular case studies2019
Novel biallelic variants in
Article in Cold Spring Harbor molecular case studies, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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
7 citing papers in PubMed, 7 citations in OpenAlex.
- MSTO1 functions as a TRiC assembly factor linking cytosolic proteostasis to mitochondrial function.bioRxiv : the preprint server for biology · 2026Article
- Mild-cerebellar ataxia due to impaired mitochondrial function caused by theFrontiers in neuroscience · 2026Article
- Seventeen-year follow-up of mitochondrial myopathy and ataxia in a Chinese family: case reports and literature review.Documenta ophthalmologica. Advances in ophthalmology · 2025Review
- Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.Journal of autism and developmental disorders · 2022Article
- Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygousFrontiers in genetics · 2022Article
- Indentification of novelFrontiers in neurology · 2022Article
- A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy.Journal of human genetics · 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
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial disorders are caused by nuclear and mitochondrial pathogenic variants leading to defects in mitochondrial function and cellular respiration. Recently, the nuclear-encoded mitochondrial fusion gene
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.