Associated Papers
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.
Ahmad R et al.
Neurogenetics, 2025
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.
Asif M et al.
Genes, 2022
36672789 (PubMed )
Supplement: genes-14-00048-s001.zip › genes-2033021-supplementary › Supplementary_files › V2_Sppplemantary_Table_S2_01.12.2022.xlsx › Sheet1
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability.
Aslanger AD et al.
Journal of Human Genetics, 2022
Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.
Alvarez-Mora MI et al.
Genes, 2021
Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.
Wilton KM et al.
Molecular Genetics & Genomic Medicine, 2020
Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder.
Krämer J et al.
Frontiers in Genetics, 2020
TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins.
Sacher M et al.
Traffic (copenhagen, Denmark), 2019
Novel Compound Heterozygous Mutations in the TRAPPC9 Gene in Two Siblings With Autism and Intellectual Disability.
Hnoonual A et al.
Frontiers in Genetics, 2019
Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.
Abbasi AA et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017
Select a paper to view details