Linking Genotype to Clinical Features in

Maria Francesca Astorino, Desirèe Speranza, Giovanni Luppino, Maria Angela La Rosa, Silvana Briuglia, Marco Calabrò

Abstract readReview

In one paragraph

Review in Genes, 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

6 authors.

Maria Francesca AstorinoDepartment of Biomedical and Dental Sciences and Morpho-Functional Imaging-BIOMORF, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0009-0000-7882-2432

Desirèe SperanzaDepartment of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0009-0005-5108-1052

Giovanni LuppinoDepartment of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0009-0008-7697-2347

Maria Angela La RosaUOSD of Genetics and Pharmacogenetics, "Gaetano Martino" University Hospital, Via Consolare Valeria, 98125 Messina, Italy.

Silvana BriugliaDepartment of Biomedical and Dental Sciences and Morpho-Functional Imaging-BIOMORF, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0000-0002-5213-441X

Marco CalabròDepartment of Biomedical and Dental Sciences and Morpho-Functional Imaging-BIOMORF, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0000-0003-2082-9855

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Germline mutations in the X-linked cohesin subunit gene

Indexed as

Cell Cycle ProteinsChromosomal Proteins, Non-HistoneDe Lange SyndromeEpilepsyCohesinsGenotypeHumansMosaicismMutationPhenotypeStructural Maintenance of Chromosome Protein 1X Chromosome InactivationCell Cycle ProteinsChromosomal Proteins, Non-HistoneCohesinsStructural Maintenance of Chromosome Protein 1cohesin complexCornelia de Langedevelopmental and epileptic encephalopathySMC1A geneX-chromosome inactivation

Identifiers

PMID41153413

DOI10.3390/genes16101196

PMCPMC12562814

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.