Evidence map›Paper›PMID 36438053›Full record

ArticleFrontiers in medicine2022

Novel pathogenic variants in

Chen Wang, Yingzi Zhang, Xuyun Hu, Lijuan Wang, Zhe Xu, Huan Xing

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

Article in Frontiers in medicine, 2022. 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 41% 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, 2 citations in OpenAlex.

  1. Review
  2. 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

6 authors at 2 institutions in 1 country.

Chen WangDepartment of Dermatology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Yingzi ZhangDepartment of Dermatology, Shunyi Maternal and Children's Hospital of Beijing Children's Hospital, Beijing, China.
Xuyun HuBeijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Genetics and Birth Defects Control Center, National Center for Children's Health, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, Beijing, China.
Lijuan WangDepartment of Dermatology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Zhe XuDepartment of Dermatology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Huan XingDepartment of Dermatology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Beijing Children’s Hospital · CNCapital Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Piebaldism is a rare autosomal dominant disease, and roughly 75% patients had Methods: To identify Results: Heterozygous variants of c.2469_2484del (p.Tyr823*), c.1994G > C (p.Pro665Leu), and c.1982_1983insCAT (p.662_663insIle) in Conclusion: The piebaldism in three families was caused by novel heterozygous

Indexed as

café-au-lait maculegenotype-phenotype correlationKIT genepiebaldismwhole-exome sequencing

Identifiers

PMID36438053
PMCPMC9684607
OpenAlexW4308875724

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.