Evidence map›Paper›PMID 36778913›Full record

ArticleFrontiers in genetics2022

Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay-Does both possibly act to modulate a candidate gene region for the patient's phenotype?

Rahma Touhami, Hajer Foddha, Eudeline Alix, Afef Jalloul, Soumaya Mougou-Zerelli, Ali Saad, Damien Sanlaville, Amel Haj Khelil

Abstract readCase Reports
In one paragraph

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

8 authors.

Rahma TouhamiLaboratory of human genome and multifactorial diseases, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.
Hajer FoddhaLaboratory of human genome and multifactorial diseases, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.
Eudeline AlixLaboratory of Cytogenetics, Hôpital Mère-enfant, CHU Lyon, Lyon, France.
Afef JalloulLaboratory of Cytogenetics, Hôpital Mère-enfant, CHU Lyon, Lyon, France.
Soumaya Mougou-ZerelliLaboratory of Cytogenetics, molecular genetics, and human reproduction biology, CHU Farhat Hached, Sousse, Tunisia.
Ali SaadLaboratory of Cytogenetics, molecular genetics, and human reproduction biology, CHU Farhat Hached, Sousse, Tunisia.
Damien SanlavilleLaboratory of Cytogenetics, Hôpital Mère-enfant, CHU Lyon, Lyon, France.
Amel Haj KhelilLaboratory of human genome and multifactorial diseases, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

array CGHBRAT1 genedeletion/duplicationepilepsyfacial dysmorphismPsychomotor delay

Identifiers

PMID36778913
PMCPMC9909830

What Socratic 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 Socratic graph.