Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC9
Variant:p.R313C
Back to variants list

TRAPPC9

NM_001160372.4:p.R313C

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

Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.

Yousefipour F et al.

Molecular Genetics & Genomic Medicine, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."