Evidence map›Paper›PMID 40909439›Full record

ArticleFrontiers in genetics2025

Unraveling the pathogenicity role of the novel compound heterozygous mutations of MED25 gene in a Chinese patient with BVSYS.

Linbing Zou, Ruikang Qiu, Zhijun Dai, Yulei Li, Yunjiao Liao, Yan Zhou

Abstract read
PubMed Full text at PMC Publisher
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Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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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

6 authors.

Linbing Zou *Hefei Maternal and Child Health Hospital Reproductive Medicine Center, Hefei, China.
Ruikang Qiu *Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, VIC, Australia.
Zhijun DaiHefei Maternal and Child Health Hospital Reproductive Medicine Center, Hefei, China.
Yulei LiXiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, China.
Yunjiao LiaoDepartment of Basic Medicine, School of Medicine, Jingchu University of Technology, Jingmen, China.
Yan ZhouDepartment of Basic Medicine, School of Medicine, Jingchu University of Technology, Jingmen, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Mediator of RNA polymerase II transcription subunit 25 ( Methods: Whole exome sequencing (WES) was performed to identify genetic variants, followed by Sanger sequencing for validation. Clinical data were correlated with established Results: The proband presented with clinical manifestations such as cognitive impairment, language difficulties, intellectual disability, and microcephaly. The study identified a compound heterozygous mutation in the Conculsion: These findings demonstrated that two mutation sites identified in the

Indexed as

c.1965+1dupc.670C>G (p.R224G)compound heterozygous mutationgene splicing assayMED25whole exome sequencing (WES)

Identifiers

PMID40909439
PMCPMC12405326

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