Evidence map›Paper›PMID 39911178›Full record

ArticleMolecular syndromology2025

A Novel Splice Site Variant in

Beria Sönmez, Mehmet Kocabey, Ayşe İpek Polat, Semra Gürsoy, Pakize Karaoğlu, Rita Horvath, Katherine R Schon, Ayfer Ülgenalp, Uluç Yiş, Ahmet Okay Çağlayan and 1 more

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Article in Molecular syndromology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Beria SönmezDivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.
Mehmet KocabeyDepartment of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.
Ayşe İpek PolatDivision of Child Neurology, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.
Semra GürsoyDivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.
Pakize KaraoğluDivision of Pediatric Neurology, Department of Pediatrics, İzmir Faculty of Medicine, Dr. Behçet Uz Children's Education and Research Hospital, University of Health Sciences Türkiye, Izmir, Turkey.
Rita HorvathDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Katherine R SchonDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Ayfer ÜlgenalpDepartment of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.
Uluç YişDivision of Child Neurology, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.
Ahmet Okay ÇağlayanDepartment of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.
Özlem Giray BozkayaDivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Nemaline myopathy (NEM) is a heterogeneous muscle disease, which usually presents with hypotonia and muscle weakness. Biallelic pathogenic variants of Case Presentation: Here, we presented three affected individuals in a family with variable phenotypes, in whom the same novel splice-site variant in Discussion: This study expanded the spectrum of genotype and phenotype of NEM8, and emphasized that molecular genetic tests are highly valuable in diagnosis of patients with inconclusive muscle biopsy results.

Indexed as

KLHL40Nemaline myopathySplice region variant

Identifiers

PMID39911178
PMCPMC11793885

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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.