Evidence map›Paper›PMID 34946860›Full record

ArticleGenes2021

Sylwia Rzońca-Niewczas, Jolanta Wierzba, Ewa Kaczorowska, Milena Poryszewska, Joanna Kosińska, Piotr Stawiński, Rafał Płoski, Jerzy Bal

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2021. 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, top 84% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

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

8 authors at 2 institutions in 1 country.

Sylwia Rzońca-NiewczasDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.ORCID 0000-0002-7372-2472
Jolanta WierzbaDepartment of Internal and Pediatric Nursing, Faculty of Health Sciences with Institute of Maritime and Tropical Medicine, Medical University of Gdansk, 80-210 Gdansk, Poland.
Ewa KaczorowskaDepartment of Biology and Medical Genetics, Medical University of Gdansk, 80-211 Gdansk, Poland.
Milena PoryszewskaDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.
Joanna KosińskaDepartment of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.
Piotr StawińskiDepartment of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.
Rafał PłoskiDepartment of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland.ORCID 0000-0001-6286-5526
Jerzy BalDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.
Medical University of Warsaw · PLGdańsk Medical University · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Investigating novel genetic variants involved in intellectual disability (ID) development is essential. X-linked intellectual disability (XLID) accounts for over 10% of all cases of ID in males. XLID genes are involved in many cellular pathways and processes. Some of them are not specific to the development and functioning of the neural system. The implementation of exome sequencing simplifies the search for novel variants, especially those less expected. Here, we describe a nonsense variant of the XLID gene,

Indexed as

Gene Expression RegulationGenes, X-LinkedMutationAdultCell Cycle ProteinsExome SequencingFemaleHumansIntellectual DisabilityMalePedigreeX-Linked Intellectual DisabilityYoung AdultCell Cycle ProteinsWDR13 protein, humanWD-40 protein familyX-chromosome exome sequencingX-linked intellectual disability

Identifiers

PMID34946860
PMCPMC8701106
OpenAlexW3216041472

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.