Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC9
Variant:p.S569Fs
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TRAPPC9

NM_001160372.4:p.S569Fs

Associated Papers

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

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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."