Evidence map›Paper›PMID 32924626›Full record

ArticleJournal of investigative medicine high impact case reports

Comparison of Genetic Variants and Manifestations of OTUD6B-Related Disorder: The First Mexican Case.

Maria Elena Romero-Ibarguengoitia, Consuelo Cantú-Reyna, Dalia Gutierrez-González, Héctor Cruz-Camino, Arnulfo González-Cantú, Miguel Angel Sanz Sánchez

Open access · goldAbstract readCase Reports
In one paragraph

Article in Journal of investigative medicine high impact case reports. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.1field-weighted citation impact, top 20% of its field
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

7 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
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  5. A New Family with a NovelMolecular syndromology · 2022
    Article
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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 at 2 institutions in 1 country.

Maria Elena Romero-IbarguengoitiaClínica Nova de Monterrey, San Nicolas de los Garza, Nuevo Leon, Mexico.ORCID 0000-0002-2572-4043
Consuelo Cantú-ReynaTecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, Mexico.ORCID 0000-0003-4432-9177
Dalia Gutierrez-GonzálezClínica Nova de Monterrey, San Nicolas de los Garza, Nuevo Leon, Mexico.
Héctor Cruz-CaminoGenomi-k SAPI de CV, Monterrey, Nuevo Leon, Mexico.ORCID 0000-0002-2815-6619
Arnulfo González-CantúClínica Nova de Monterrey, San Nicolas de los Garza, Nuevo Leon, Mexico.
Miguel Angel Sanz SánchezClínica Nova de Monterrey, San Nicolas de los Garza, Nuevo Leon, Mexico.
University of Monterrey · MXTecnológico de Monterrey · MX

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The intellectual disability syndrome characterized by seizures and dysmorphic features was initially described in 2017 and was associated with genetic variants in the

Indexed as

Abnormalities, MultipleChildEndopeptidasesExome SequencingGenetic VariationHomozygoteHumansIntellectual DisabilityMaleMexicoSeizuresEndopeptidasesOTUD6B protein, humanabnormalitiesintellectual disabilityOTUD6Bseizureswhole-exome sequencing

Identifiers

PMID32924626
PMCPMC7493228
OpenAlexW3086249563

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.