Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC9
Variant:p.L805_Q806insFs
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TRAPPC9

NM_001160372.4:p.L805_Q806insFs

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

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

Novel Compound Heterozygous Mutations in the TRAPPC9 Gene in Two Siblings With Autism and Intellectual Disability.

Hnoonual A et al.

Frontiers in Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."