Evidence map›Paper›PMID 33936702›Full record

ArticleClinical case reports2021

A rare case of patient with neurofibromatosis type 1 in a genotype-phenotype correlation revealing a submicroscopic deletion on the long arm of chromosome 17.

Vityala Yethindra, Tugolbai Tagaev, Elmira Mamytova, Elmira Mainazarova, Cholpon Dzhumakova, Asel Namazbekova

Abstract readCase Reports
In one paragraph

Article in Clinical case reports, 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
–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

2 citing papers in PubMed.

  1. Review
  2. 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

6 authors.

Vityala YethindraDepartment of Pathology, International Higher School of Medicine International University of Kyrgyzstan Bishkek Kyrgyzstan.ORCID https://orcid.org/0000-0003-1007-2422
Tugolbai TagaevDepartment of Public Health and Healthcare I.K. Akhunbaev Kyrgyz State Medical Academy Bishkek Kyrgyzstan.
Elmira MamytovaA.N. Murzaliev Department of Neurology and Clinical Genetics I.K. Akhunbaev Kyrgyz State Medical Academy Bishkek Kyrgyzstan.
Elmira MainazarovaDepartment of Experimental Pathophysiology Kyrgyz-Russian Slavic University Bishkek Kyrgyzstan.
Cholpon DzhumakovaDepartment of Gastroenterology National Center of Oncology and Hematology Bishkek Kyrgyzstan.
Asel NamazbekovaDepartment of Cancer Registry National Center of Oncology and Hematology Bishkek Kyrgyzstan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This paper details a case of neurofibromatosis type 1 (NF1) in a genotype-phenotype correlation, and the complexity of pathogenic variants of NF1 gene make correlation difficult. Establishing correlation is useful for targeted therapeutic intervention.

Indexed as

geneticsneurologyophthalmologypediatrics and adolescent medicine

Identifiers

PMID33936702
PMCPMC8077389

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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.