Evidence map›Paper›PMID 35958499›Full record

ArticleAmerican journal of translational research2022

A novel mutation of the

Qi He, Jingjing Jiang, Jiao Yang, Junjie Zeng, Huan Zhang, Zhengzhong Zhang

Open access · greenAbstract read
In one paragraph

Article in American journal of translational research, 2022. 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
0.2field-weighted citation impact, top 44% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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.

Qi HeDepartment of Dermatology, Affiliated Hospital of North Sichuan Medical College Nanchong 637000, Sichuan, China.
Jingjing JiangDepartment of Dermatology, Affiliated Hospital of North Sichuan Medical College Nanchong 637000, Sichuan, China.
Jiao YangDepartment of Dermatology, Affiliated Hospital of North Sichuan Medical College Nanchong 637000, Sichuan, China.
Junjie ZengDepartment of Dermatology, Taikang Sichuan Southwest Hospital Company Limited Chengdu 610000, Sichuan, China.
Huan ZhangDepartment of Dermatology, Affiliated Hospital of North Sichuan Medical College Nanchong 637000, Sichuan, China.
Zhengzhong ZhangDepartment of Dermatology, Affiliated Hospital of North Sichuan Medical College Nanchong 637000, Sichuan, China.
North Sichuan Medical University · CNSichuan Provincial Hospital of Traditional Chinese Medicine · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMutations in the neurofibromin 1 (

objectiveTo clarify the relationship between

methodsPeripheral blood samples were collected from a patient and her relatives and genomic DNA was extracted for next-generation sequencing (NGS) to detect potential variants; the results were validated by Sanger sequencing.

resultsA novel frameshift variant c.4508_c.4509delAT (p.Asn1503fsTer26) was detected in exon 34 of the

conclusionsThis finding expands the spectrum of pathogenic mutations of the

Indexed as

mutationNeurofibromatosis type 1NF1 geneSanger sequencingwhole-exome sequencing

Identifiers

PMID35958499
PMCPMC9360891
OpenAlexW4291283283

What Socratic holds

Textmetadata
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.