Evidence map›Paper›PMID 42493427›Full record

ArticleClinical genetics2026

Novel Germline ELP1 Splice-Acceptor Variant in NF1-Negative Optic Pathway Glioma: Expanding the Clinical Spectrum Associated With ELP1 Variation.

Atbin Latifi, Sina Yousefian, Mohammad Ali Daneshmand, Mohamad R Akbari

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PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 2026. 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

4 authors.

Atbin LatifiSchool of Medicine, Arak University of Medical Sciences, Arak, Iran.ORCID https://orcid.org/0000-0003-2115-9910
Sina YousefianStudent Research Committee, Arak University of Medical Sciences, Arak, Iran.ORCID https://orcid.org/0009-0001-5046-5047
Mohammad Ali DaneshmandIndependent Pathologist, Formerly Affiliated With Arak University of Medical Sciences, Arak, Iran.ORCID https://orcid.org/0000-0003-0142-1301
Mohamad R AkbariWomen's College Hospital, University of Toronto, Toronto, Ontario, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a 7-year-old boy with NF1-negative optic pathway glioma harboring a novel germline ELP1 splice-acceptor variant (NM_003640.5:c.2205-2A>G) identified by whole-exome sequencing. The variant was likely pathogenic (ACMG/AMP: PVS1, PM2) and inherited from an asymptomatic father, consistent with incomplete penetrance, expanding the limited evidence linking germline ELP1 variation to gliomas.

Indexed as

Germ-Line MutationNeurofibromin 1Optic Nerve GliomaChildExome SequencingGenetic Predisposition to DiseaseHumansMalePedigreeRNA Splice SitesNeurofibromin 1NF1 protein, humanRNA Splice Sitescancer predispositionELP1germline variantincomplete penetranceoptic pathway gliomapediatric gliomasplice‐acceptor variant

Identifiers

PMID42493427
PMCPMC13533860

What OpenQuestion holds

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Registered trials

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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.