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Article

Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes.

Scientific reports - 19 Feb 2026

Butt Amina Iftikhar, Bazai Fariya Khan, Kakar Kaleemullah, Daud Shakeela, Seo Go Hun, Ahmad Jamil, Naz Sadaf

Abstract excerpt

Intellectual disability (ID) is a neurodevelopmental disorder, characterized by congenital cognitive and adaptive behavioral issues. We studied multiple patients with ID born to consanguineous parents. Exome sequencing was completed for selected patients and the data were filtered using an allele frequency of less than 0.01. All exonic and splice-site variants were considered. Segregation analyses were performed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41714691
DOI: 10.1038/s41598-026-40182-6
PMCID: PMC13018609

Genes

FMO4
QPCTL
ATP13A2
UFSP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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