Evidence map›Paper›PMID 37457836›Full record

ArticleFrontiers in molecular biosciences2023

Identification of novel compound heterozygous variants in the

Lamei Yuan, Xuehui Yu, Heng Xiao, Sheng Deng, Hong Xia, Hongbo Xu, Yan Yang, Hao Deng

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

Article in Frontiers in molecular biosciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 37% 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

3 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
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 2 institutions in 1 country.

Lamei YuanHealth Management Center, The Third Xiangya Hospital, Central South University, Changsha, China.
Xuehui YuHealth Management Center, The Third Xiangya Hospital, Central South University, Changsha, China.
Heng XiaoHealth Management Center, The Third Xiangya Hospital, Central South University, Changsha, China.
Sheng DengDepartment of Pharmacy, Xiangya Hospital, Central South University, Changsha, China.
Hong XiaDepartment of Emergency, The Third Xiangya Hospital, Central South University, Changsha, China.
Hongbo XuCenter for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
Yan YangDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Hao DengHealth Management Center, The Third Xiangya Hospital, Central South University, Changsha, China.
Central South University · CNThird Xiangya Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Most internal organs in humans and other vertebrates exhibit striking left-right asymmetry in position and structure. Variation of normal organ positioning results in left-right asymmetry disorders and presents as internal organ reversal or randomization. Up to date, at least 82 genes have been identified as the causative genetic factors of left-right asymmetry disorders. This study sought to discover potential pathogenic variants responsible for left-right asymmetry disorder present in a Han-Chinese family using whole exome sequencing combined with Sanger sequencing. Novel compound heterozygous variants, c.5690A>G (p.Asn1897Ser) and c.7759G>A (p.Val2587Met), in the dynein axonemal heavy chain 1 gene (

Indexed as

DNAH1genetic analysisleft-right asymmetry disordernovel variantwhole exome sequencing

Identifiers

PMID37457836
PMCPMC10345202
OpenAlexW4382813563

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.