Evidence map›Paper›PMID 34552620›Full record

ArticleFrontiers in genetics2021

Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of

Anna G Shestak, Leonid M Makarov, Vera N Komoliatova, Irina V Kolesnikova, Liubov O Skorodumova, Edward V Generozov, Elena V Zaklyazminskaya

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

Article in Frontiers in genetics, 2021. 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 47% 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, 1 citations in OpenAlex.

  1. Multi-site validation of a functional assay to adjudicatemedRxiv : the preprint server for health sciences · 2023
    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

7 authors at 2 institutions in 1 country.

Anna G ShestakRussian National Research Center of Surgery Named After B.V. Petrovsky, Moscow, Russia.
Leonid M MakarovCenter for Syncope and Cardiac Arrhythmias in Children and Adolescents of the Federal Medical Biological Agency, Moscow, Russia.
Vera N KomoliatovaCenter for Syncope and Cardiac Arrhythmias in Children and Adolescents of the Federal Medical Biological Agency, Moscow, Russia.
Irina V KolesnikovaFederal Research and Clinical Center of Physical Chemical Medicine of the Federal Medical Biological Agency, Moscow, Russia.
Liubov O SkorodumovaFederal Research and Clinical Center of Physical Chemical Medicine of the Federal Medical Biological Agency, Moscow, Russia.
Edward V GenerozovFederal Research and Clinical Center of Physical Chemical Medicine of the Federal Medical Biological Agency, Moscow, Russia.
Elena V ZaklyazminskayaRussian National Research Center of Surgery Named After B.V. Petrovsky, Moscow, Russia.
Federal Medical-Biological Agency · RURussian Scientific Center of Surgery · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary cardiac channelopathies are a group of diseases wherein the role of DNA testing in aiding diagnosis and treatment-based decision-making is gaining increasing attention. However, in some cases, evaluating the pathogenicity of new variants is still challenging. We report an accurate multistage assessment of a rare genetic variant in the

Indexed as

genetic counselingnext generation sequencingnoncanonical transcriptspathogenicity assessmentSCN5A genewhole exome sequencing

Identifiers

PMID34552620
PMCPMC8450431
OpenAlexW3197058412

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.