Evidence map›Paper›PMID 38515714›Full record

ArticleHeliyon2024

Variants located in intron 6 of

Yujin Qu, Jinli Bai, Hui Jiao, Hong Qi, Wenchen Huang, Shijia OuYang, Xiaoyin Peng, Yuwei Jin, Hong Wang, Fang Song

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

Article in Heliyon, 2024. 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 27% 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, 2 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

10 authors at 2 institutions in 1 country.

Yujin QuDepartment of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
Jinli BaiDepartment of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
Hui JiaoDepartment of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing, China.
Hong QiPrenatal Diagnosis Center, Beijing Haidian District Maternal and Child Health Care Hospital, Beijing, China.
Wenchen HuangDepartment of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
Shijia OuYangDepartment of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
Xiaoyin PengDepartment of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing, China.
Yuwei JinDepartment of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
Hong WangDepartment of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
Fang SongDepartment of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
Capital Institute of Pediatrics · CNHainan Maternal and Child Health Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Accurate genetic diagnosis is necessary for guiding the treatment of spinal muscular atrophy (SMA). An updated consensus for the diagnosis and management of SMA was published in 2018. However, clinicians should remain alert to some pitfalls of genetic testing that can occur when following a routine diagnosis. In this study, we report the diagnosis of three unrelated individuals who were initially misdiagnosed as carrying a homozygous deletion of

Indexed as

Carrier screeningGenetic diagnosisMisdiagnosisSpinal muscular atrophyVariant

Identifiers

PMID38515714
PMCPMC10955315
OpenAlexW4392747133

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.