Evidence map›Paper›PMID 42769338›Full record

ArticleAmerican journal of translational research2026

A

Yangfan Fei, Dan Hu, Lyu Liu, Xianglian Tian, Jinbao Chai, Lixia Wu, Aiping Li, Qinglian Zhang, Daibo Li

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of translational research, 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

9 authors.

Yangfan FeiWest China Hospital Sichuan University, Meishan Hospital Meishan, Sichuan, China.
Dan HuWest China Hospital Sichuan University, Meishan Hospital Meishan, Sichuan, China.
Lyu LiuWest China Hospital Sichuan University, Meishan Hospital Meishan, Sichuan, China.
Xianglian TianSchool of Laboratory Medicine, Chengdu Medical College Chengdu, Sichuan, China.
Jinbao ChaiWest China Hospital Sichuan University, Meishan Hospital Meishan, Sichuan, China.
Lixia WuWest China Hospital Sichuan University, Meishan Hospital Meishan, Sichuan, China.
Aiping LiWest China Hospital Sichuan University, Meishan Hospital Meishan, Sichuan, China.
Qinglian ZhangSchool of Laboratory Medicine, Chengdu Medical College Chengdu, Sichuan, China.
Daibo LiWest China Hospital Sichuan University, Meishan Hospital Meishan, Sichuan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesCHARGE syndrome (CS), a rare inherited condition, is mainly caused by pathogenic variants in the gene encoding chromodomain helicase DNA-binding protein 7 (

methodsA 28-year-old female with amenorrhea, facial asymmetry, right ear malformation, hearing impairment, and congenital cardiac anomalies was evaluated using whole-exome sequencing (WES) for mutation screening. Familial Sanger sequencing subsequently confirmed the identified variant as

resultsWES detected a heterozygous

conclusionsA

Indexed as

CHARGE syndromeCHD7 genede novo mutationhomology modelingsplice-site variantwhole-exome sequencing

Identifiers

PMID42769338
PMCPMC13590664

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.