Evidence map›Paper›PMID 41463295›Full record

ArticleBiomolecules2025

Characterization of Novel Variants in

Ana Zamora-Cánovas, Ana Marín-Quílez, Lorena Díaz-Ajenjo, Ana Sánchez-Fuentes, Pedro Luis Gómez-González, Marilena Crescente, Nuria Fernández-Mosteirín, José Padilla, José Ramón González-Porras, Rocío Benito and 3 more

Abstract read
In one paragraph

Article in Biomolecules, 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

13 authors.

Ana Zamora-CánovasServicio de Hematología, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, 30003 Murcia, Spain.
Ana Marín-QuílezServicio de Hematología, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, 30003 Murcia, Spain.ORCID 0000-0002-2005-1919
Lorena Díaz-AjenjoInstituto de Investigación Biomédica de Salamanca (IBSAL), Centro de Investigación del Cáncer, IBMCC-CSIC, Universidad de Salamanca (USAL), 37007 Salamanca, Spain.
Ana Sánchez-FuentesServicio de Hematología, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, 30003 Murcia, Spain.ORCID 0000-0002-4656-4771
Pedro Luis Gómez-GonzálezServicio de Hematología, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, 30003 Murcia, Spain.ORCID 0009-0007-6103-7236
Marilena CrescenteCentre for Immunobiology, Faculty of Medicine and Dentistry, Blizard Institute, Queen Mary University of London, London E1 2AD, UK.
Nuria Fernández-MosteirínServicio de Hematología, Hospital Universitario Miguel Servet, 50009 Zaragoza, Spain.
José PadillaServicio de Hematología, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, 30003 Murcia, Spain.ORCID 0000-0003-1599-7870
José Ramón González-PorrasInstituto de Investigación Biomédica de Salamanca (IBSAL), Centro de Investigación del Cáncer, IBMCC-CSIC, Universidad de Salamanca (USAL), 37007 Salamanca, Spain.ORCID 0000-0003-3266-7996
Rocío BenitoInstituto de Investigación Biomédica de Salamanca (IBSAL), Centro de Investigación del Cáncer, IBMCC-CSIC, Universidad de Salamanca (USAL), 37007 Salamanca, Spain.ORCID 0000-0001-9781-4198
María Luisa LozanoServicio de Hematología, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, 30003 Murcia, Spain.ORCID 0000-0003-3148-7037
José María BastidaInstituto de Investigación Biomédica de Salamanca (IBSAL), Centro de Investigación del Cáncer, IBMCC-CSIC, Universidad de Salamanca (USAL), 37007 Salamanca, Spain.ORCID 0000-0002-8007-3909
José Rivera PozoServicio de Hematología, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, 30003 Murcia, Spain.ORCID 0000-0003-4225-6840

Funding

Fundación Séneca - Agencia de Ciencia y Tecnología de la Región de Murcia 21920/PI/22Gerencia Regional de Salud GRS2551/A/22, GRS2907/A1/2023, GRS2727/A1/23ISCIII&EU PI23/00624; PI24/01458, PMP21/00052Sociedad Española de Trombosis y Hemostasia Ayuda Grupos de trabajo (GEAPC)
6 · The paper itself

Abstract

Inherited platelet function disorders (IPFDs) are rare diseases caused by defects in platelet surface receptors, enzymes, granules, or signaling proteins. In humans, GPVI and P2Y12 deficiency cause autosomal recessive bleeding disorders, while TBXAS1 deficiency is related to Ghosal hematodiaphyseal dysplasa, a rare autosomal recessive disorder characterized by increased long bone density and platelet dysfunction without bleeding. To date, at least 20 patients have been identified with molecular defects in

Indexed as

HemorrhagePlatelet Membrane GlycoproteinsReceptors, Purinergic P2Y12AdultBlood PlateletsFemaleHumansMaleMutation, MissenseP2RY12 protein, humanPlatelet Membrane Glycoproteinsplatelet membrane glycoprotein VIReceptors, Purinergic P2Y12bleedingGPVI deficiencyinherited platelet function disordersIPFDP2Y12 deficiencyTBXAS1 deficiency

Identifiers

PMID41463295
PMCPMC12730773

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.