Evidence map›Paper›PMID 40276109›Full record

ArticleFrontiers in pediatrics2025

Identification of a novel mutation in the

Aoshuang Jiang, Tianping Chen, Nan Wei, Chenglin Zhu, Jie Wang, Hongjun Liu, Min Wang

Abstract readCase Reports
In one paragraph

Article in Frontiers in pediatrics, 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

7 authors.

Aoshuang JiangDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital (Anhui Hospital, Pediatric Hospital of Fudan University), Hefei Anhui, China.
Tianping ChenDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital (Anhui Hospital, Pediatric Hospital of Fudan University), Hefei Anhui, China.
Nan WeiDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital (Anhui Hospital, Pediatric Hospital of Fudan University), Hefei Anhui, China.
Chenglin ZhuDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital (Anhui Hospital, Pediatric Hospital of Fudan University), Hefei Anhui, China.
Jie WangDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital (Anhui Hospital, Pediatric Hospital of Fudan University), Hefei Anhui, China.
Hongjun LiuDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital (Anhui Hospital, Pediatric Hospital of Fudan University), Hefei Anhui, China.
Min WangDepartment of Hematology and Oncology, Anhui Provincial Children's Hospital (Anhui Hospital, Pediatric Hospital of Fudan University), Hefei Anhui, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Osteopetrosis, also known as osteosclerosis and marble-bone disease, is a rare genetic metabolic bone disorder caused by the dysplasia or dysfunction of osteoclasts, usually caused by variants of chloride voltage-gated channel 7 (

Indexed as

bioinformatics analysischildrenCLCN7 geneosteopetrosisvariant

Identifiers

PMID40276109
PMCPMC12020480

What OpenQuestion holds

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LicenceCC BY
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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.