Evidence map›Paper›PMID 40904637›Full record

ArticleIntractable & rare diseases research2025

Identification of a novel

Xinyue Deng, Lingling Zhao, Ming Chen, Qin Xiang, Hongbo Xu, Jiangang Wang, Hao Deng, Lamei Yuan

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Intractable & rare diseases research, 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

8 authors.

Xinyue DengHealth Management Center, the Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Lingling ZhaoDepartment of Pediatrics, the Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Ming ChenHealth Management Center, the Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Qin XiangHunan Provincial University Key Laboratory of the Fundamental and Clinical Research on Neurodegenerative Diseases, Changsha Medical University, Changsha, Hunan, China.
Hongbo XuCenter for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Jiangang WangHealth Management Center, the Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Hao DengHealth Management Center, the Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Lamei YuanHealth Management Center, the Third Xiangya Hospital, Central South University, Changsha, Hunan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

CHOPS (cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia) syndrome is an extremely rare disorder with multiple congenital anomalies caused by missense variants in the ALF transcription elongation factor 4 gene (

Indexed as

AFF4 geneCHOPS syndromede novo variantnovel variantwhole exome sequencing

Identifiers

PMID40904637
PMCPMC12403891

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.