Evidence map›Paper›PMID 40225147›Full record

ArticleHuman mutation2023

Combination of Synonymous and Missense Mutations in

Xingcui Wang, Rujin Tian, Haozheng Zhang, Mohnad Abdalla, Lu Bai, Yuqiang Lv, Min Gao, Guiyu Lin, Qinghua Liu, Yi Liu and 3 more

Abstract readCase Reports
In one paragraph

Article in Human mutation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. Article
  2. Identification of novelFrontiers in genetics · 2026
    Article
  3. Review
  4. Intron Variant CauseHuman mutation · 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

13 authors.

Xingcui WangScience and Technology Service Platform, Qilu University of Technology (Shandong Academy of Sciences), China.
Rujin TianPediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China.
Haozheng ZhangPediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China.
Mohnad AbdallaPediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China.ORCID 0000-0002-1682-5547
Lu BaiDepartment of Pediatrics, The Second Hospital of Shandong University, Jinan, China.
Yuqiang LvPediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China.
Min GaoPediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China.
Guiyu LinPediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China.
Qinghua LiuDepartment of Ultrasonic Imaging, Children's Hospital Affiliated to Shandong University, Jinan, China.
Yi LiuPediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China.
Qiuxia HeScience and Technology Service Platform, Qilu University of Technology (Shandong Academy of Sciences), China.ORCID 0000-0001-9096-8637
Dong WangPediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China.ORCID 0000-0001-6473-5872
Kaihui ZhangPediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China.ORCID 0000-0003-4799-9133

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Janus kinase 3 (JAK3, NP_000206.2) is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction JAK/STAT pathway.

Indexed as

Genetic Predisposition to DiseaseJanus Kinase 3Mutation, MissenseSevere Combined ImmunodeficiencyHumansInfantPedigreeJAK3 protein, humanJanus Kinase 3

Identifiers

PMID40225147
PMCPMC11919225

What OpenQuestion holds

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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.