Evidence map›Paper›PMID 34786417›Full record

ArticleWorld journal of clinical cases2021

Missense mutation in

Feng-Juan Ding, Gui-Zhen Lyu, Victor Wei Zhang, Hua Jin

Open access · diamondAbstract readCase Reports
In one paragraph

Article in World journal of clinical cases, 2021. 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
0.1field-weighted citation impact, top 60% 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. Article
  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

4 authors at 2 institutions in 1 country.

Feng-Juan DingPrenatal Diagnosis Center, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China.
Gui-Zhen LyuAmCare Genomics lab (Guangzhou), Guangzhou 510300, Guangdong Province, China.
Victor Wei ZhangAmCare Genomics lab (Guangzhou), Guangzhou 510300, Guangdong Province, China.
Hua JinPrenatal Diagnosis Center, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China. tonyshirly@163.com.
Guangzhou Experimental Station · CNShandong Maternal and Child Health Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe CASE SUMMARY: A 4-mo-old Chinese female child with adducted thumbs, high arch feet, and epileptic seizure presented slow response, delayed development, and low limb muscle strength. Electroencephalogram showed abnormal waves, a large number of multifocal sharp waves, sharp slow waves, and multiple spasms with a series of attacks. High-throughput sequencing and Sanger sequencing identified a heterozygous mutation, c.5885G>A (p.R1962H), in the

conclusionWe herein report a

Indexed as

Case reportDYNC1H1Medical exome sequencingMental retardationMuscle weakness

Identifiers

PMID34786417
PMCPMC8567516
OpenAlexW3207795518

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.