Evidence map›Paper›PMID 37841286›Full record

ArticleFrontiers in cellular neuroscience2023

A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization.

Leping Li, Lalith Perera, Sonia A Varghese, Yael Shiloh-Malawsky, Senyene E Hunter, Tam P Sneddon, Cynthia M Powell, A Gregory Matera, Zheng Fan

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in cellular neuroscience, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.9field-weighted citation impact, top 22% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 2 institutions in 1 country.

Leping LiBiostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, Durham, NC, United States.
Lalith PereraGenome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, Durham, NC, United States.
Sonia A VargheseDivision of Pediatric Neurology, Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Yael Shiloh-MalawskyDivision of Pediatric Neurology, Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Senyene E HunterDivision of Pediatric Neurology, Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Tam P SneddonDepartment of Pathology and Lab Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Cynthia M PowellDivision of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
A Gregory MateraIntegrative Program for Biological and Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Zheng FanDivision of Pediatric Neurology, Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
University of North Carolina at Chapel Hill · USNational Institute of Environmental Health Sciences · US

Funding

Role of histone PTMs in epigenetic control of metazoan transcription and RNA processingR35GM136435 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI A. Gregory Matera · 2020 to 2026
$4.7M
Macromolecular ModelingZIAES043010 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI PEDERSEN, LEE · 2009 to 2011
$1.3M
Intramural NIH HHS ZIA ES043010NIGMS NIH HHS R35 GM136435
6 · The paper itself

Abstract

The vast majority of severe (Type 0) spinal muscular atrophy (SMA) cases are caused by homozygous deletions of survival motor neuron 1 (

Indexed as

African Americanc.796T>C variantg.27134T>G polymorphismmodelingnon-deletionspinal muscular atrophy (SMA)YG Box

Identifiers

PMID37841286
PMCPMC10571918
OpenAlexW4387100203

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.