Evidence map›Paper›PMID 34071867›Full record

ArticleGenes2021

Genetic Variant c.245A>G (p.Asn82Ser) in

Nika V Petrova, Andrey V Marakhonov, Natalia V Balinova, Anna V Abrukova, Fedor A Konovalov, Sergey I Kutsev, Rena A Zinchenko

Open access · goldAbstract read
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.3field-weighted citation impact, top 24% 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

5 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. A review of the mechanisms underlying the role of theFrontiers in synaptic neuroscience · 2022
    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

7 authors at 1 institution in 1 country.

Nika V PetrovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Andrey V MarakhonovResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-0972-5118
Natalia V BalinovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0001-9493-6544
Anna V AbrukovaPresidential Perinatal Center of the Public Health Ministry of Chuvashia, Genetic Counseling Department, 428018 Cheboksary, Russia.
Fedor A KonovalovIndependent Clinical Bioinformatics Laboratory, 123181 Moscow, Russia.ORCID 0000-0001-6414-436X
Sergey I KutsevResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Rena A ZinchenkoResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-3586-3458
Research Centre for Medical Genetics · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary nonsyndromic sensorineural hearing loss is a disease in which hearing loss occurs due to damage to the organ of the inner ear, the auditory nerve, or the center in the brain that is responsible for the perception of sound, characterized by wide locus and allelic heterogeneity and different types of inheritance. Given the diversity of population of the Russian Federation, it seems necessary to study the ethnic characteristics of the molecular causes of the disease. The aim is to study the molecular and genetic causes of hereditary sensorineural hearing loss in Chuvash, the fifth largest ethnic group in Russia. DNA samples of 26 patients from 21 unrelated Chuvash families from the Republic of Chuvashia, in whom the diagnosis of hereditary sensorineural hearing loss had been established, were analyzed using a combination of targeted Sanger sequencing, multiplex ligase-dependent probe amplification, and whole exome sequencing. The homozygous variant NM_133261.3(

Indexed as

Polymorphism, Single NucleotideAdaptor Proteins, Signal TransducingAdolescentAdultChildChild, PreschoolFemaleGene FrequencyHearing Loss, SensorineuralHumansInfantMaleMutation, MissenseRussiaAdaptor Proteins, Signal TransducingGIPC3 protein, human“bottle neck” effectChuvash populationdeafnessGIPC3hearing losspopulation frequency

Identifiers

PMID34071867
PMCPMC8226456
OpenAlexW3163951825

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.