Evidence map›Paper›PMID 39452491›Full record

ArticleDiseases (Basel, Switzerland)2024

A Novel Compound Nonsense Variant in

Jaime Toral López, Cesar Candia Tenopala, Alix Daniela Reyes Mosqueda, Miguel Ángel Fonseca Sánchez, Luz María González Huerta

Abstract readCase Reports
In one paragraph

Article in Diseases (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. 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

5 authors.

Jaime Toral LópezDepartment of Medical Genetics, Centro Medico ISSEMYM Ecatepec, Ecatepec 55000, México State, Mexico.ORCID 0000-0003-0324-7351
Cesar Candia TenopalaDepartment of Pediatric Endocrinology, Centro Medico ISSEMYM Ecatepec, Ecatepec 55000, México State, Mexico.
Alix Daniela Reyes MosquedaDepartment of Diagnostic and Therapeutic Imaging, Centro Medico ISSEMYM Ecatepec, Ecatepec 55000, México State, Mexico.
Miguel Ángel Fonseca SánchezDepartment of Investigation, Hospital General de México "Dr. Eduardo Liceaga", México City 06720, Mexico.
Luz María González HuertaLaboratory of Molecular Biology, Section of Investigation, Department of Genetic, Hospital General de México "Dr. Eduardo Liceaga", México City 06720, Mexico.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

atypicalcalcitriolcompound nonsense heterozygousCYP27B1 genehypophosphatemiavitamin D-deficient rickets type 1A

Identifiers

PMID39452491
PMCPMC11506771

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.