Evidence map›Paper›PMID 39296199›Full record

ArticleHeliyon2024

Novel homozygous missense variants in

Gongao Wu, Ruofei Lian, Mengchun Li, Liang Jin, Tianming Jia, Lijun Wang, Ling Gan, Shichao Zhao, Ruirui Liang, Yan Dong

Abstract 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 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Gongao WuDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Ruofei LianDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Mengchun LiDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Liang JinDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Tianming JiaDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Lijun WangDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Ling GanDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Shichao ZhaoDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Ruirui LiangDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Yan DongDepartment of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia (NEDSCAC), induced by Methods: In this study, we conducted genetic testing on a child presenting with developmental delay as the primary clinical feature. The genetic test results indicated the presence of novel homozygous missense variants c.74G > A, p.(Arg25His) in the Results: The results demonstrated a significant reduction in protein expression of MED27 Arg25His and indicated may weaken the interaction force between the MED27 subunit and MED14 subunit. Conclusions: This study expands our understanding of

Indexed as

GeneticsGlobal developmental delayMED27 gene variantNEDSCAC

Identifiers

PMID39296199
PMCPMC11409145

What OpenQuestion holds

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Registered trials

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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.