Evidence map›Paper›PMID 37492747›Full record

ArticleGenes & diseases2023

Biallelic mutations in

Li Shu, Guangyao Xie, Daoqi Mei, Rui Xu, Shixian Liu, Bo Xiao, Xing Li, Yuanyuan Xie, Xiao Mao, Hua Wang

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

Article in Genes & diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.3field-weighted citation impact, top 18% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. UDP-glucose dehydrogenase variants cause dystroglycanopathy.Annals of clinical and translational neurology · 2025
    Article
  3. AFrontiers in genetics · 2025
    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 6 institutions in 2 countries.

Li ShuNational Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410005, China.
Guangyao XieNational Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410005, China.
Daoqi MeiDepartment of Neurology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan 450018, China.
Rui XuDepartment of Cell Biology and Genetics, School of Basic Medical Science, Xinjiang Medical University, Urumqi, Xinjiang 830054, China.
Shixian LiuDepartment of Pediatric Neurological and Rehabilitation, Ganzhou Women and Children's Health Care Hospital, Ganzhou, Jiangxi 341000, China.
Bo XiaoDepartment of Neurology, Xiangya Hospital, Changsha, Hunan 410005, China.
Xing LiDepartment of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530021, China.
Yuanyuan XieDepartment of Neurology, Xiangya Hospital, Changsha, Hunan 410005, China.
Xiao MaoNational Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410005, China.
Hua WangDepartment of Medical Genetics, Hunan Children's Hospital, Changsha, Hunan 410007, China.
Hunan Provincial Maternal and Child Health Hospital · CNGuangxi Medical University · CNHunan Children's Hospital · CNUniversity of Calgary · CAXinjiang Medical University · CNZhengzhou Children's Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID37492747
PMCPMC10363629
OpenAlexW4315487767

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.