Evidence map›Paper›PMID 38981629›Full record

ArticleNeurosciences (Riyadh, Saudi Arabia)2024

The genetic spectrum of

Shanshan Chen, Hongrong Cheng, Guohua Zhao

Abstract read
In one paragraph

Article in Neurosciences (Riyadh, Saudi Arabia), 2024. 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
–field-weighted citation impact
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.

  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

3 authors.

Shanshan ChenFrom Nursing Department (Chen), International Health Center, The First Affiliated Hospital, Zhejiang University School of Medicine; and from Department of Neurology (Cheng, Zhao), The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang, China.
Hongrong ChengFrom Nursing Department (Chen), International Health Center, The First Affiliated Hospital, Zhejiang University School of Medicine; and from Department of Neurology (Cheng, Zhao), The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang, China.
Guohua ZhaoFrom Nursing Department (Chen), International Health Center, The First Affiliated Hospital, Zhejiang University School of Medicine; and from Department of Neurology (Cheng, Zhao), The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang, China.ORCID https://orcid.org/0000-0003-0593-9175

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo investigate the clinical and genetic features in a cohort of Chinese families with neurofibromatosis type 1 (NF1).

methodsThe clinical information of 21 patients with

resultsNine different

conclusionWe identified 2 novel heterozygous variants (c.5197T>C and c.783_797delinsC) in the

Indexed as

Neurofibromatosis 1AdolescentAdultChildChild, PreschoolChinaEast Asian PeopleFamilyFemaleHumansMaleMiddle AgedMutationNeurofibromin 1PedigreeRetrospective StudiesNeurofibromin 1NF1 protein, human

Identifiers

PMID38981629
PMCPMC11305348

What Socratic 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 Socratic graph.