Evidence map›Paper›PMID 34322155›Full record

ArticleFrontiers in genetics2021

Biallelic

Rui Ban, Zhimei Liu, Masaru Shimura, Xiao Tong, Junling Wang, Lei Yang, Manting Xu, Jing Xiao, Kei Murayama, Matthias Elstner and 2 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 35% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. 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

12 authors at 5 institutions in 3 countries.

Rui BanDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Zhimei LiuDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Masaru ShimuraInstitute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.
Xiao TongDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Junling WangDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Lei YangDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Manting XuDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Jing XiaoDepartment of Neurology, Beijing New Century International Children's Hospital, Beijing China.
Kei MurayamaDepartment of Metabolism, Chiba Children's Hospital, Chiba, Japan.
Matthias ElstnerDepartment of Neurology, School of Medicine, Technical University of Munich, Munich, Germany.
Holger ProkischDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Fang FangDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Beijing Children’s Hospital · CNCapital Medical University · CNChiba Hospital · JPHelmholtz Zentrum München · DETechnical University of Munich · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveThe cytochrome c oxidase assembly factor 7 (

methodsWe performed trio-exome sequencing in the affected patient and both parents. To verify the pathogenicity of the detected variants in

resultsA Chinese girl was referred at 9 months of age with a history of developmental delay and regression since 3 months of age. In the following months, she lost previously acquired skills and developed progressive spasticity of the lower extremities. Trio-exome sequencing revealed compound heterzygous variants in

interpretationHitherto, characteristic features of

Indexed as

biallelic variantCOA7/RESA1COX assembly factormitochondrial diseasenervous system disorder

Identifiers

PMID34322155
PMCPMC8312223
OpenAlexW3186761538

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.