Evidence map›Paper›PMID 36573038›Full record

ArticleThe Journal of international medical research2022

The clinical spectrum of a nonsense mutation in

Dongbo Wang, Jun He, Xueyi Li, Shuyuan Yan, Linglin Pan, Tuanmei Wang, Liangrong Zhou, Jiyang Liu, Xiangwen Peng

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of international medical research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 40% of its field
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

1 citing paper in PubMed, 5 citations in OpenAlex.

  1. Article
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 at 2 institutions in 1 country.

Dongbo WangSchool of Humanities and Management, Hunan University of Chinese Medicine, Changsha, Hunan Province.
Jun HeChangsha Hospital for Maternal and Child Health Care, Hunan Normal University, Changsha, Hunan Province, China.
Xueyi LiChangsha Hospital for Maternal and Child Health Care, Hunan Normal University, Changsha, Hunan Province, China.
Shuyuan YanChangsha Hospital for Maternal and Child Health Care, Hunan Normal University, Changsha, Hunan Province, China.
Linglin PanChangsha Hospital for Maternal and Child Health Care, Hunan Normal University, Changsha, Hunan Province, China.
Tuanmei WangChangsha Hospital for Maternal and Child Health Care, Hunan Normal University, Changsha, Hunan Province, China.
Liangrong ZhouSchool of Humanities and Management, Hunan University of Chinese Medicine, Changsha, Hunan Province.
Jiyang LiuChangsha Municipal Health Commission, Changsha, Hunan Province, China.
Xiangwen PengChangsha Hospital for Maternal and Child Health Care, Hunan Normal University, Changsha, Hunan Province, China.ORCID 0000-0001-9110-5163
Hunan Normal University · CNHunan University of Traditional Chinese Medicine · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

KAT6A syndrome is an autosomal dominant genetic disorder associated with intellectual disability due to mutations in the lysine acetyltransferase 6A (

Indexed as

Heart Septal Defects, AtrialIntellectual DisabilityCodon, NonsenseHistone AcetyltransferasesHumansMaleMutationPhenotypeCodon, NonsenseHistone AcetyltransferasesKAT6A protein, humanatrial septal defectKAT6A syndromeLysine acetyltransferase 6A (KAT6A) genewhole exome sequencing

Identifiers

PMID36573038
PMCPMC9806384
OpenAlexW4312200959

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.