Evidence map›Paper›PMID 41675683›Full record

ArticleMolecular syndromology2026

Clinical and Genetic Spectrum of

Gamze Sarıkaya Uzan, Berk Özyılmaz, Gizem Doğan, Figen Baydan, Yiğithan Güzin, Pınar Gençpınar, Hande Gazeteci Tekin, Nihal Olgaç Dündar

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2026. 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

8 authors.

Gamze Sarıkaya UzanDivision of Child Neurology, Department of Pediatrics, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
Berk ÖzyılmazDepartment of Medical Genetics, University of Health Sciences, Faculty of Medicine, Izmir, Turkey.
Gizem DoğanDivision of Child Neurology, Department of Pediatrics, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
Figen BaydanDivision of Child Neurology, Department of Pediatrics, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
Yiğithan GüzinDivision of Child Neurology, Department of Pediatrics, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
Pınar GençpınarDivision of Child Neurology, Department of Pediatrics, Izmir Katip Çelebi University Faculty of Medicine, Izmir, Turkey.
Hande Gazeteci TekinDivision of Child Neurology, Department of Pediatrics, Bakırçay University Faculty of Medicine, Izmir, Turkey.
Nihal Olgaç DündarDivision of Child Neurology, Department of Pediatrics, Izmir Katip Çelebi University Faculty of Medicine, Izmir, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: In this study, we examined the genotype-phenotype characteristics of the cases with pathogenic/possibly pathogenic variants in the Methods: Data of patients who applied to our clinic and had pathogenic/possibly pathogenic/variant of unknown significance variants in the Results: The variants were detected in 19 patients from 18 different families. The most common ( Conclusion:

Indexed as

Asymptomatic hyperCKemiaMalignant hyperthermiaNeuromuscular disordersNovel variantRYR1-related myopathy

Identifiers

PMID41675683
PMCPMC12890276

What OpenQuestion holds

Textmetadata
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.