ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
On CALFAN syndrome: report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04653909 (The Effectiveness of Rehabilitation Program in an Ultra-rare Calfan Syndrome), which is not on this map. Cited by 12 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.
The Effectiveness of Rehabilitation Program in an Ultra-rare Calfan Syndrome
Who cites it
12 citing papers in PubMed.
- Recurrent Acute Liver Failure and Early Chronic Liver Disease in an Infant with CALFAN Syndrome.Indian pediatrics · 2026Article
- Recurrent acute liver failure in infancy - a novelWorld journal of clinical pediatrics · 2026Article
- How Early Should I Refer My Patient? The Benefits of a Quick Ophthalmic Referral in Spinocerebellar Ataxias, a Case Series and Literature Review.Brain sciences · 2026Article
- Article
- SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death.Disease models & mechanisms · 2025Article
- Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.Journal of inherited metabolic disease · 2025Review
- CALFAN (LowCase reports in hepatology · 2023Article
- Overexpression of SCYL1 Is Associated with Progression of Breast Cancer.Current oncology (Toronto, Ont.) · 2022Article
- mTORC1 controls Golgi architecture and vesicle secretion by phosphorylation of SCYL1.Nature communications · 2022Article
- Slo2 potassium channel function depends on RNA editing-regulated expression of a SCYL1 protein.eLife · 2020Article
- Response to Spagnoli et al.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Recurrent acute liver failure associated with novelWorld journal of clinical cases · 2019Article
Corrections and comments
- Commented on by
- Comment on
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
30531813What 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.