Evidence map›Paper›PMID 38248310›Full record

ArticleCurrent issues in molecular biology2023

An Unusual Presentation of Novel Missense Variant in

Tatyana A Vasilyeva, Natella V Sukhanova, Olga V Khalanskaya, Andrey V Marakhonov, Nikolai S Prokhorov, Vitaly V Kadyshev, Nikolay A Skryabin, Sergey I Kutsev, Rena A Zinchenko

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

Article in Current issues in molecular biology, 2023. 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
0.3field-weighted citation impact, top 35% 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, 2 citations in OpenAlex.

  1. 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

9 authors at 3 institutions in 2 countries.

Tatyana A VasilyevaResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Natella V SukhanovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-4371-775X
Olga V KhalanskayaResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Andrey V MarakhonovResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-0972-5118
Nikolai S ProkhorovDepartment of Molecular and Cellular Biochemistry, Indiana University, Bloomington, IN 47405, USA.ORCID 0000-0001-9621-0245
Vitaly V KadyshevResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0001-7765-3307
Nikolay A SkryabinResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, 634050 Tomsk, Russia.ORCID 0000-0002-2491-3141
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 · RUIndiana University Bloomington · USRussian Academy of Sciences · RU

Funding

Ministry of Science and Higher Education of the Russian Federation RF 193021X0029
6 · The paper itself

Abstract

This study investigates a unique and complex eye phenotype characterized by minimal iris defects, foveal hypoplasia, optic nerve coloboma, and severe posterior segment damage. Through genetic analysis and bioinformatic tools, a specific nonsynonymous substitution, p.(Asn114Ser), within the

Indexed as

gain-of-function mutationiris stromal defectPAX6 missense variantretina coloboma

Identifiers

PMID38248310
PMCPMC10814852
OpenAlexW4390112658

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.