Evidence map›Paper›PMID 40740503›Full record

ArticleInternational journal of genomics2025

Whole Exome Sequencing Identified a Stop-Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family.

Saba Baghshomali, Asiyeh Jebelli, Mina Kazemzadeh, Farzaneh Jalalypour, Mohammad Yazdchi, Amir Ali Mokhtarzadeh, Leila Emrahi

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of genomics, 2025. 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
–field-weighted citation impact
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. 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.

Saba BaghshomaliDepartment of Biological Sciences, Faculty of Basic Sciences, Higher Education Institute of Rab-Rashid, Tabriz, Iran.ORCID https://orcid.org/0009-0007-3369-321X
Asiyeh JebelliDepartment of Cell and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Tehran, Iran.ORCID https://orcid.org/0000-0001-9494-2207
Mina KazemzadehDepartment of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran.ORCID https://orcid.org/0000-0003-1985-8122
Farzaneh JalalypourDepartment of Computer Science and Engineering, Section for Data Science and AI, Chalmers University of Technology, Chalmersplatsen 4, Gothenburg, 412 96, Sweden.ORCID https://orcid.org/0000-0001-5092-1914
Mohammad YazdchiNeurosciences Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.ORCID https://orcid.org/0000-0002-5469-3709
Amir Ali MokhtarzadehImmunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.ORCID https://orcid.org/0000-0002-4515-8675
Leila EmrahiDepartment of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.ORCID https://orcid.org/0000-0002-5952-6416

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

DYSFdysferlinLGMDmuscular dystrophyWES

Identifiers

PMID40740503
PMCPMC12310322

What OpenQuestion holds

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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.