ArticleCold Spring Harbor molecular case studies2017
Compound heterozygous
Article in Cold Spring Harbor molecular case studies, 2017. 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, 24 citations in OpenAlex.
- Precision diagnosis and treatment of vitamin metabolism-related epilepsy.Acta epileptologica · 2024Review
- Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.Bioscience reports · 2022Article
- Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer.Scientific reports · 2022Article
- Report of the Largest Chinese Cohort WithFrontiers in genetics · 2021Review
- Contaminating DNA in human saliva alters the detection of variants from whole genome sequencing.Scientific reports · 2020Article
- Article
- Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.NAR genomics and bioinformatics · 2020Article
- RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions.Scientific reports · 2019Article
- Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.Annals of clinical and translational neurology · 2019Article
- Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a NovelJournal of pediatric genetics · 2019Article
- [Paroxysmal crying and motor regression for more than two months in an infant].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 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
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the 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.