Evidence map›Paper›PMID 37372933›Full record

ArticleInternational journal of molecular sciences2023

Evaluation of Pathogenicity and Causativity of Variants in the

Olga Shchagina, Mariya Orlova, Aisylu Murtazina, Alexandra Filatova, Mikhail Skoblov, Elena Dadali

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.9field-weighted citation impact, top 30% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Genetic Landscape ofFrontiers in genetics · 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

6 authors at 1 institution in 1 country.

Olga ShchaginaResearch Centre for Medical Genetics, Moscow 115522, Russia.ORCID 0000-0003-4905-1303
Mariya OrlovaResearch Centre for Medical Genetics, Moscow 115522, Russia.
Aisylu MurtazinaResearch Centre for Medical Genetics, Moscow 115522, Russia.ORCID 0000-0001-7023-7378
Alexandra FilatovaResearch Centre for Medical Genetics, Moscow 115522, Russia.ORCID 0000-0002-5979-0727
Mikhail SkoblovResearch Centre for Medical Genetics, Moscow 115522, Russia.ORCID 0000-0002-7293-3438
Elena DadaliResearch Centre for Medical Genetics, Moscow 115522, Russia.
Research Centre for Medical Genetics · RU

Funding

Ministry of Science and Higher Education of the Russian Federation grant number № 075-15-2021-1061, RF 193021X0029
6 · The paper itself

Abstract

The implementation of NGS methods into clinical practice allowed researchers effectively to establish the molecular cause of a disorder in cases of a genetically heterogeneous pathology. In cases of several potentially causative variants, we need additional analysis that can help in choosing a proper causative variant. In the current study, we described a family case of hereditary motor and sensory neuropathy (HMSN) type 1 (Charcot-Marie-Tooth disease). DNA analysis revealed two variants in the

Indexed as

Charcot-Marie-Tooth DiseaseCodon, NonsenseFrameshift MutationHumansIntracellular Signaling Peptides and ProteinsMutationMyelin P0 ProteinVirulenceCodon, NonsenseIntracellular Signaling Peptides and ProteinsMPZ protein, humanMyelin P0 ProteinSH3TC2 protein, humanCMTgene panelHMSNminigene assayMPZSH3TC2splicing variants

Identifiers

PMID37372933
PMCPMC10298462
OpenAlexW4379519699

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.