Evidence map›Paper›PMID 41467078›Full record

ArticleThe application of clinical genetics2025

A Novel Exon Duplication in the

Jakub P Fichna, Ewelina Elert-Dobkowska, Wiktoria Radziwonik-Fraczyk, Karolina Ziora-Jakutowicz, Michalina Maria Wężyk, Mariusz Berdyński, Jacek Zaremba, Cezary Żekanowski, Małgorzata Bednarska-Makaruk

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In one paragraph

Article in The application of clinical genetics, 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

9 authors.

Jakub P Fichna *Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute - Polish Academy of Sciences, Warsaw, Poland.ORCID 0000-0002-4077-4807
Ewelina Elert-Dobkowska *Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
Wiktoria Radziwonik-FraczykDepartment of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
Karolina Ziora-JakutowiczDepartment of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
Michalina Maria WężykDepartment of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute - Polish Academy of Sciences, Warsaw, Poland.
Mariusz BerdyńskiDepartment of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute - Polish Academy of Sciences, Warsaw, Poland.
Jacek ZarembaDepartment of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
Cezary ŻekanowskiDepartment of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute - Polish Academy of Sciences, Warsaw, Poland.
Małgorzata Bednarska-MakarukDepartment of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in the

Indexed as

ataxiaCNVdiagnosticsexpressionneurodegenerationnext generation sequencing

Identifiers

PMID41467078
PMCPMC12744822

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.