Evidence map›Paper›PMID 40004556›Full record

ArticleGenes2025

Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in

Stefano Pagano, Diego Lopergolo, Alessandro De Falco, Camilla Meossi, Sara Satolli, Rosa Pasquariello, Rosanna Trovato, Alessandra Tessa, Claudia Casalini, Lucia Pfanner and 3 more

Abstract read
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. AI-Based Facial Phenotyping Supports a Shared Molecular Axis inInternational journal of molecular sciences · 2025
    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

13 authors.

Stefano PaganoMolecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Diego LopergoloUOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, 53100 Siena, Italy.ORCID 0000-0003-2256-0482
Alessandro De FalcoMolecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.ORCID 0000-0003-1569-1556
Camilla MeossiMolecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.ORCID 0000-0002-6574-9608
Sara SatolliMolecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.ORCID 0009-0008-6679-0531
Rosa PasquarielloDepartment of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Rosanna TrovatoMolecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Alessandra TessaMolecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Claudia CasaliniDepartment of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.ORCID 0000-0002-3867-484X
Lucia PfannerDepartment of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Guja AstreaDepartment of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.ORCID 0000-0001-8588-0323
Roberta BattiniDepartment of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Filippo M SantorelliMolecular Medicine, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.ORCID 0000-0002-1359-9062

Funding

Ministero della Salute Ricerca Corrente
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Craniofacial AbnormalitiesIntellectual DisabilityNeurodevelopmental DisordersAdolescentChildChild, PreschoolCohort StudiesFemaleHumansItalyMaleMutationPhenotypeVesicular Transport ProteinsPACS1 protein, humanVesicular Transport Proteinsc.607C>Tintellectual disabilityliterature reviewPACS1red flagsSchuurs–Hoeijmakers syndrome

Identifiers

PMID40004556
PMCPMC11855022

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.