Evidence map›Paper›PMID 40949880›Full record

ArticleFrontiers in genetics2025

Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China.

Cong Zhou, Yuanyuan Xiao, Xing Wei, Jing Wang, Shanling Liu

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
–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

5 authors.

Cong ZhouDepartment of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.
Yuanyuan XiaoDepartment of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.
Xing WeiDepartment of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.
Jing WangDepartment of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.
Shanling LiuDepartment of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Alport syndrome (AS) is an inherited disorder affecting basement membrane collagen IV. AS is characterized by hematuria and progressive renal failure, accompanied by high-frequency sensorineural deafness and ocular changes. AS is caused by collagen type IV α3 chain ( Results: We detected 21 Conclusion: We performed molecular diagnosis on 15 patients using targeted exome sequencing. Our findings indicate additional

Indexed as

Alport syndromeCOL4A3COL4A4COL4A5targeted exome sequencingvariants

Identifiers

PMID40949880
PMCPMC12425891

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.