Evidence map›Paper›PMID 31645980›Full record

ArticleHuman genome variation2019

Targeted next-generation sequencing identified a known

Xiafei Dai, Chenqing Zheng, Xuepin Chen, Yibin Tang, Hongmei Zhang, Chao Yan, Huihui Ma, Xiaoping Li

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

Article in Human genome variation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. The Diverse Cellular Functions of Inner Nuclear Membrane Proteins.Cold Spring Harbor perspectives in biology · 2021
    Review
  2. 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

8 authors at 3 institutions in 1 country.

Xiafei Dai1School of Medicine, University of Electronic Science and Technology of China, 610072 Chengdu, Sichuan China.
Chenqing ZhengShenzhen RealOmics (Biotech) Co., Ltd., 518081 Shenzhen, China.
Xuepin Chen2Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, 610072 Chengdu, Sichuan China.
Yibin Tang2Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, 610072 Chengdu, Sichuan China.
Hongmei Zhang2Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, 610072 Chengdu, Sichuan China.
Chao Yan1School of Medicine, University of Electronic Science and Technology of China, 610072 Chengdu, Sichuan China.
Huihui Ma1School of Medicine, University of Electronic Science and Technology of China, 610072 Chengdu, Sichuan China.
Xiaoping Li1School of Medicine, University of Electronic Science and Technology of China, 610072 Chengdu, Sichuan China.
Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital · CNLifetech Scientific (China) · CNUniversity of Electronic Science and Technology of China · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked recessive disease characterized by the clinical triad of early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death. Targeted next-generation sequencing was performed for a Chinese patient with EDMD and the previously reported mutation [NM_000117.2: c.251_255del (p.Leu84Profs*7)] in exon 3 of the emerin gene (

Indexed as

Cardiovascular diseasesRare variants

Identifiers

PMID31645980
PMCPMC6804839
OpenAlexW2972151011

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.