Evidence map›Paper›PMID 40313595›Full record

ArticleFrontiers in genetics2025

Identification of a novel homozygous

Hua He, Lijuan Long, Manling Tang, Qiang Xu, Shengwu Duan, Ge Chen, Yan Zhao, Qiongfang Wu, Jia Chen

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

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.

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

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Hua HeLaboratory Medicine Center, Zhuzhou Hospital Affiliated to Xiangya School of Medicine, Central South University, Zhuzhou, China.
Lijuan LongDepartment of Critical Care Medicine, Zhuzhou Hospital Affiliated to Xiangya School of Medicine, Central South University, Zhuzhou, China.
Manling TangLaboratory Medicine Center, Zhuzhou Hospital Affiliated to Xiangya School of Medicine, Central South University, Zhuzhou, China.
Qiang XuReproductive Medicine Center, Jiangxi Maternal and Child Health Hospital, Nanchang, China.
Shengwu DuanDepartment of Radiology, Zhuzhou Hospital Affiliated to Xiangya School of Medicine, Central South University, Zhuzhou, China.
Ge ChenCentral Laboratory, Jiangxi Maternal and Child Health Hospital, Nanchang, China.
Yan ZhaoReproductive Medicine Center, Jiangxi Maternal and Child Health Hospital, Nanchang, China.
Qiongfang WuReproductive Medicine Center, Jiangxi Maternal and Child Health Hospital, Nanchang, China.
Jia ChenReproductive Medicine Center, Jiangxi Maternal and Child Health Hospital, Nanchang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Biallelic loss-of-function variants in the Methods: A Chinese Han pediatric patient with epilepsy and global developmental delay was described in this study. Trio-whole exome sequencing (WES) including the patient and her parents was performed to determine the genetic basis of the phenotype. Potential pathogenic variants were subsequently confirmed by Sanger sequencing. Additionally, we conducted an extensive review of the literature regarding Results: Trio-WES revealed a novel homozygous variant c.1705T>G in Discussion: We identified a novel homozygous nonstop mutation in the

Indexed as

developmental and epileptic encephalopathyhomozygousnonstop mutationSLC13A5whole exome sequencing

Identifiers

PMID40313595
PMCPMC12043571

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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.