Evidence map›Paper›PMID 36568409›Full record

ArticleSaudi journal of biological sciences2023

Functional consequences of Genetics variant in

Abdullah Al Mutery, Walaa Kamal Eldin Mohamed, Mona Mahfood, Jihen Chouchen, Abdelaziz Tlili

Open access · hybridAbstract read
In one paragraph

Article in Saudi journal of biological sciences, 2023. 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, top 86% 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, 0 citations in OpenAlex.

  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 at 1 institution in 2 countries.

Abdullah Al MuteryDepartment of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.
Walaa Kamal Eldin MohamedDepartment of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.
Mona MahfoodDepartment of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.
Jihen ChouchenMolecular Genetics and Stem Cell Research Laboratory, University of Sharjah, Sharjah, United Arab Emirates.
Abdelaziz TliliDepartment of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.
University of Sharjah · AE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hearing loss (HL) is the most prevalent sensory disorder whose etiology comes from environmental and/or genetic factors. Approximately 60 % of HL cases are due to mutations in genes responsible for maintaining a normal hearing function. Despite the monogenic inheritance of hereditary hearing loss (HHL), its diagnosis is challenging as both clinical and genetic heterogeneity characterizes it. Through the development of next-generation sequencing (NGS) techniques, the number of identified mutations responsible for HHL has increased exponentially during the last decade. Mutations in the

Indexed as

ARNSHL, Autosomal Recessive Nonsyndromic Hearing Lossc.596A > T mutationGATK, Genome Analysis ToolkitGnomAD, Genome Aggregation DatabaseHHL, Hereditary Hearing LossHL, Hearing LossNGS, Next Generation SequencingNon-syndromic Hearing LossNSHHL, Nonsyndromic Hereditary Hearing LossPCR, Polymerase Chain ReactionPhenotypic variabilityProtein dockingTMC1UAE, United Arabs EmiratesWES, Whole-Exome SequencingWhole-exome sequencing

Identifiers

PMID36568409
PMCPMC9772550
OpenAlexW4311169179

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.