Evidence map›Paper›PMID 35340658›Full record

ArticleClinical case reports2022

Detection of a new deleterious

Faiza Chbel, Hicham Charroute, Redouane Boulouiz, Hasna Hamdaoui, Houssein Mossafa, Houda Benrahma, Karim Ouldim

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

Article in Clinical case reports, 2022. 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
0.4field-weighted citation impact, top 34% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Detection of a new deleteriousClinical case reports · 2022
    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

7 authors at 3 institutions in 1 country.

Faiza ChbelNational Reference Laboratory Faculty of Medicine Mohammed VI University of Health Sciences (UM6SS) Casablanca Morocco.ORCID https://orcid.org/0000-0001-9990-1877
Hicham CharrouteUnité de Recherche en Epidémiologie Biostatistique et Bioinformatique Institut Pasteur du Maroc Casablanca Morocco.
Redouane BoulouizISPITS Oujda Morocco.
Hasna HamdaouiNational Reference Laboratory Faculty of Medicine Mohammed VI University of Health Sciences (UM6SS) Casablanca Morocco.
Houssein MossafaNational Reference Laboratory Faculty of Medicine Mohammed VI University of Health Sciences (UM6SS) Casablanca Morocco.
Houda BenrahmaNational Reference Laboratory Faculty of Medicine Mohammed VI University of Health Sciences (UM6SS) Casablanca Morocco.
Karim OuldimNational Reference Laboratory Faculty of Medicine Mohammed VI University of Health Sciences (UM6SS) Casablanca Morocco.
Université Mohammed VI des Sciences et de la Santé · MAInstitut Pasteur du Maroc · MAInstituts Supérieurs des Professions Infirmières et Techniques de Santé · MA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Myoclonus-dystonia (M-D) is a pleiotropic neuropsychiatric disorder with autosomal dominant mode of inheritance with variable severity and incomplete penetrance. Pathogenic variants in ξ-sarcoglycan gene SGCE are the most frequently known genetic cause of M-D with maternal imprinting, and in most cases, a symptomatic individual inherits the pathogenic variant from his or her father. This work reported a missense mutation c.662G> T inherited in the M-D Moroccan family described for the first time, which is deleterious based on protein modeling analysis.

Indexed as

c.662G>T mutationfamilial myoclonus–dystoniamodelingMoroccoSGCE gene

Identifiers

PMID35340658
PMCPMC8931306
OpenAlexW4221071092

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.