Associated Papers
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
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