Evidence map›Paper›PMID 38540404›Full record

ArticleGenes2024

Spectrum of Mutations in

Anna Orlova, Daria Guseva, Nina Demina, Aleksander Polyakov, Oksana Ryzhkova

Open access · goldAbstract read
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.2field-weighted citation impact, top 23% 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

6 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Largely preserved vestibular function despite severe-to-profound hearing loss in Noonan syndrome spectrum disorders.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026
    Article
  4. Article
  5. Article
  6. Variants of theGenes · 2024
    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

5 authors at 1 institution in 1 country.

Anna OrlovaSRC «Genome», Research Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-8831-1844
Daria GusevaCounselling Unit, Research Centre for Medical Genetics, 115522 Moscow, Russia.
Nina DeminaCounselling Unit, Research Centre for Medical Genetics, 115522 Moscow, Russia.
Aleksander PolyakovDNA-Diagnostics Laboratory, Research Centre for Medical Genetics, 115522 Moscow, Russia.
Oksana RyzhkovaSRC «Genome», Research Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-1285-9093
Research Centre for Medical Genetics · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Noonan syndrome is a group of diseases with a similar clinical picture, consisting of 16 diseases caused by mutations in 15 genes. According to the literature, approximately half of all cases are attributed to Noonan syndrome type 1, NSML, caused by mutations in the

Indexed as

Noonan SyndromeAllelesHumansMutationProtein Tyrosine Phosphatase, Non-Receptor Type 11RussiaProtein Tyrosine Phosphatase, Non-Receptor Type 11PTPN11 protein, humanLEOPARD syndromeNoonan syndromeNSMLpopulation studyPTPN11 gene

Identifiers

PMID38540404
PMCPMC10970286
OpenAlexW4392546220

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.