Evidence map›Paper›PMID 39202783›Full record

ArticleLife (Basel, Switzerland)2024

Comprehensive Screening of Genetic Variants in the Coding Region of

Samuel Sarmiento Doncel, Ronald Guillermo Peláez, Pablo Lapunzina, Fernando F Corrales-Medina, Gina Alejandra Díaz Mosquera, Santiago Bonanad, Javier Mauricio Cortes, Mario Cazalla, Natalia Gallego, Felipe Querol-Giner and 2 more

Abstract read
In one paragraph

Article in Life (Basel, Switzerland), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Genetic analysis ofFrontiers in medicine · 2026
    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

12 authors.

Samuel Sarmiento DoncelIntegral Solutions SD SAS, Integral Solutions Research, Bogota 110121, Colombia.
Ronald Guillermo PeláezLife Sciences and Health Research Group, Graduates School, CES University, Medellin 050021, Colombia.ORCID 0000-0002-2815-9844
Pablo LapunzinaInstituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.ORCID 0000-0002-6324-4825
Fernando F Corrales-MedinaDivision of Pediatric Hematology-Oncology, Department of Pediatrics, University of Miami-Miller School of Medicine, Miami, FL 33136, USA.ORCID 0000-0001-6185-4809
Gina Alejandra Díaz MosqueraIntegral Solutions SD SAS, Integral Solutions Research, Bogota 110121, Colombia.ORCID 0000-0003-0417-5548
Santiago BonanadHospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.ORCID 0000-0002-8390-8211
Javier Mauricio CortesIntegral Solutions SD SAS, Integral Solutions Research, Bogota 110121, Colombia.
Mario CazallaInstituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.ORCID 0009-0007-1931-0390
Natalia GallegoInstituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.ORCID 0000-0002-7523-1474
Felipe Querol-GinerPhysiotherapy in Motion Multispeciality Research Group (PTinMOTION), Department of Physiotherapy, University of Valencia, 46010 Valencia, Spain.ORCID 0000-0002-2590-284X
Jair TenorioInstituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.ORCID 0000-0002-5308-2316
José A López GuerreroDoctoral School, Catholic University of Valencia San Vicente Mártir (UCV), 46002 Valencia, Spain.ORCID 0000-0002-7369-8388

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hemophilia A is an X-linked disorder characterized by quantitative deficiency of coagulation factor VIII (FVIII) caused by pathogenic variants in the factor 8 (

Indexed as

F8FVIIIhemophilia Ainhibitorsmutationpathogenicvariantswhole sequence exome

Identifiers

PMID39202783
PMCPMC11355106

What OpenQuestion 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 OpenQuestion graph.