The most common structural variant expected at the

Roberto Rozenberg, Fabiano Tofoli de Araujo, Hsin Fen Chien, Egberto Reis Barbosa, Lygia V Pereira

Abstract read

In one paragraph

Article in Clinical parkinsonism & related disorders, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it

0cells of the map it votes in

2citing 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

2 citing papers in PubMed.

Recombinant GBA1 alleles presenting as exon-level deletions by short-read NGS in Parkinson disease: Implications for diagnostic approaches.Journal of human genetics · 2026
Article
Clinical Utility ofGenes · 2026
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

5 authors.

Roberto RozenbergLaboratório nacional de Células Tronco Embrionárias (LaNCE), Dept. de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.

Fabiano Tofoli de AraujoLaboratório nacional de Células Tronco Embrionárias (LaNCE), Dept. de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.

Hsin Fen ChienNúcleo de estudos de distúrbios do Movimento, Dept. de Neurologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

Egberto Reis BarbosaNúcleo de estudos de distúrbios do Movimento, Dept. de Neurologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

Lygia V PereiraLaboratório nacional de Células Tronco Embrionárias (LaNCE), Dept. de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Recombinant alleles are responsible for a large part of Gaucher disease (GD) causing alterations. This is because Methods: Two cohorts were screened for the mid part of the TRIP-SV in PD patients using a specific amplification method. One cohort was formed by 65 early onset PD patients and the other with 100 idiopathic PD patients. Results: In each cohort one patient carrying the TRIP-SV was detected. Sanger sequencing confirmed the expected sequence of the TRIP-SV. Conclusion: Our findings indicate that it is mandatory that groups analyzing the

Indexed as

GBA1/GBAP1 recombinant allelesParkinson’s diseaseSV at GBA1 gene

Identifiers

PMID40470483

DOI10.1016/j.prdoa.2025.100338

PMCPMC12134532

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC-ND

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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.