Evidence map›Paper›PMID 42255913›Full record

ArticleFrontiers in pediatrics2026

A novel homozygous

Xuefang Liu, Lingyu Pang, Jingjie Li, Jing Zhang, Wenjuan Wu, Xin Li, Yubing Gong, Yueying Dou, Fang Chen, Suzhen Sun

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 2026. 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
–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

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

10 authors.

Xuefang Liu *First Department of Neurology, Hebei Children's Hospital, Shijiazhuang, China.
Lingyu Pang *First Department of Neurology, Hebei Children's Hospital, Shijiazhuang, China.
Jingjie LiFirst Department of Neurology, Hebei Children's Hospital, Shijiazhuang, China.
Jing ZhangFirst Department of Neurology, Hebei Children's Hospital, Shijiazhuang, China.
Wenjuan WuFirst Department of Neurology, Hebei Children's Hospital, Shijiazhuang, China.
Xin LiFirst Department of Neurology, Hebei Children's Hospital, Shijiazhuang, China.
Yubing GongFirst Department of Neurology, Hebei Children's Hospital, Shijiazhuang, China.
Yueying DouFirst Department of Neurology, Hebei Children's Hospital, Shijiazhuang, China.
Fang ChenFirst Department of Neurology, Hebei Children's Hospital, Shijiazhuang, China.
Suzhen SunFirst Department of Neurology, Hebei Children's Hospital, Shijiazhuang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: The Methods: To identify disease-causing mutations, we performed exome sequencing (ES) of a child with West syndrome, and subsequently employed a minigene splicing assay to evaluate the functional impact of the Results: The patient's clinical manifestations, examination results, treatment, and follow-up course were comprehensively documented. ES revealed a homozygous NM_006420.3: c.5181+1G>T variant in the Conclusion: A novel pathogenic variant was identified by ES, and a minigene splicing assay established its disruptive impact on

Indexed as

ARFGEF2 genemicrocephalyminigene splicing assayperiventricular nodular heterotopiaWest syndrome

Identifiers

PMID42255913
PMCPMC13236913

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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.