A Homozygous Deep Intronic SNX14 Variant Activates Pseudo-Exon Inclusion in a Patient with SCAR20.

Doriana Misceo, Petter Strømme, Arvind Y M Sundaram, Pål Marius Bjørnstad, Mari Elen Strand, Maninder Singh Chawla, Eirik Frengen

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Article in Genes, 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

7 authors.

Doriana MisceoDepartment of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.ORCID 0000-0002-6594-5801

Petter StrømmeDivision of Pediatrics and Adolescent Medicine, Oslo University Hospital, 0450 Oslo and Faculty of Medicine, University of Oslo, 0450 Oslo, Norway.ORCID 0000-0003-3421-8131

Arvind Y M SundaramDepartment of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.ORCID 0000-0002-3007-7784

Pål Marius BjørnstadDepartment of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.ORCID 0000-0001-6217-7467

Mari Elen StrandDepartment of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.

Maninder Singh ChawlaDepartment of Neuroradiology, Oslo University Hospital, 0450 Oslo, Norway.

Eirik FrengenDepartment of Medical Genetics, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.ORCID 0000-0002-8387-2247

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Sorting NexinsSpinocerebellar AtaxiasAdultExonsFibroblastsHomozygoteHumansIntronsRNA SplicingWhole Genome SequencingSorting Nexinscerebellar ataxiadeep intronic variantFRASER 2.0OUTRIDERRNA-sequencingSCAR20SNX14

Identifiers

PMID42074495

DOI10.3390/genes17040378

PMCPMC13116672

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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.