Evidence map›Paper›PMID 36635257›Full record

ArticleHuman genome variation2023

EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review.

Zahra Abbasi, Hossein Jafari Khamirani, Seyed Mohammad Bagher Tabei, Jamal Manoochehri, Mehdi Dianatpour, Seyed Alireza Dastgheib

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

Article in Human genome variation, 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
0.2field-weighted citation impact, top 52% 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. Biomolecular condensates and disease pathogenesis.Science China. Life sciences · 2024
    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

6 authors at 1 institution in 1 country.

Zahra AbbasiDepartment of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
Hossein Jafari KhamiraniDepartment of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.ORCID http://orcid.org/0000-0001-7703-7387
Seyed Mohammad Bagher TabeiDepartment of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
Jamal ManoochehriDepartment of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
Mehdi DianatpourDepartment of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
Seyed Alireza DastgheibDepartment of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran. dastgheib@sums.ac.ir.
Shiraz University of Medical Sciences · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic variants in the EPS8 gene result in nonsyndromic hearing loss. This gene encodes the EPS8 protein in cochlear inner hair cells and performs critical roles in stimulating actin polymerization and bundling. Thus far, only four pathogenic variations in EPS8 have been described. In this study, we report the fifth pathogenic variant in the EPS8 gene in an Iranian patient with DFNB102. Furthermore, we review literature cases with EPS8 mutations.

Identifiers

PMID36635257
PMCPMC9837036
OpenAlexW4315776861

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.