Evidence map›Paper›PMID 38790209›Full record

ArticleGenes2024

A Missense Variant in

Muhammad A Usmani, Amama Ghaffar, Mohsin Shahzad, Javed Akram, Aisha I Majeed, Kausar Malik, Khushbakht Fatima, Asma A Khan, Zubair M Ahmed, Sheikh Riazuddin and 1 more

Abstract readCase Reports
In one paragraph

Article in Genes, 2024. 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
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.

  1. Review
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

11 authors.

Muhammad A UsmaniDepartment of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.ORCID 0009-0009-1441-5091
Amama GhaffarDepartment of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Mohsin ShahzadDepartment of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.
Javed AkramDepartment of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.
Aisha I MajeedDepartment of Radiology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.
Kausar MalikCenter of Excellence in Molecular Biology, University of the Punjab, Lahore 54500, Pakistan.
Khushbakht FatimaDepartment of Applied Health Sciences, University of Management and Technology, Lahore 54500, Pakistan.
Asma A KhanCenter of Excellence in Molecular Biology, University of the Punjab, Lahore 54500, Pakistan.
Zubair M AhmedDepartment of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.ORCID 0000-0003-2914-4502
Sheikh RiazuddinDepartment of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.ORCID 0000-0001-6012-0192
Saima RiazuddinDepartment of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.

Funding

Genetics and Functional Studies of Autosomal Recessive Neurological DisordersR01NS107428 · NINDS · UNIVERSITY OF MARYLAND BALTIMORE · PI Saima Riazuddin · 2018 to 2026
$4.7M
NINDS NIH HHS R01 NS107428NINDS NIH HHS R01NS107428
6 · The paper itself

Abstract

Intellectual disability (ID), which affects around 2% to 3% of the population, accounts for 0.63% of the overall prevalence of neurodevelopmental disorders (NDD). ID is characterized by limitations in a person's intellectual and adaptive functioning, and is caused by pathogenic variants in more than 1000 genes. Here, we report a rare missense variant (c.350T>C; p.(Leu117Ser)) in

Indexed as

Mutation, MissenseNeurodevelopmental DisordersUbiquitin-Protein LigasesAdultConsanguinityDNA Mutational AnalysisEpilepsyFemaleHumansIntellectual DisabilityMaleMuscle SpasticityPakistanHACE1 protein, humanUbiquitin-Protein Ligasesautosomal recessiveepilepsyexome sequencingintellectual disabilityNDD

Identifiers

PMID38790209
PMCPMC11121239

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.