Evidence map›Paper›PMID 36101782›Full record

ArticleClinical case reports2022

The identification of a novel frameshift insertion mutation in the

Wanlu Liu, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu

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

Article in Clinical case reports, 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
0.3field-weighted citation impact, top 39% 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, 2 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

5 authors at 1 institution in 1 country.

Wanlu LiuDepartment of Obstetrics and Gynecology Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan China.
Xinwei ShiDepartment of Obstetrics and Gynecology Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan China.
Yuqi LiDepartment of Obstetrics and Gynecology Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan China.
Fuyuan QiaoDepartment of Obstetrics and Gynecology Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan China.
Yuanyuan WuDepartment of Obstetrics and Gynecology Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan China.ORCID https://orcid.org/0000-0002-0000-6491
Tongji Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

To identify the pathogenic gene variation in a Chinese family with Hereditary Multiple Exostoses (HME). By examining blood-sourced DNA and clinical manifestations of the proband and his family members, the whole exome sequencing (WES) and Sanger sequencing were used to detect possibly pathogenic mutations. A novel heterozygous mutation (c.325dup) was identified in exon 1 of the

Indexed as

EXT1frameshift insertion mutationhereditary multiple exostoses

Identifiers

PMID36101782
PMCPMC9459098
OpenAlexW4295196958

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.