Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC6B
Variant:p.R42*
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TRAPPC6B

NM_001079537.2:p.R42*

Associated Papers

TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes.

Hall R et al.

International Journal of Molecular Sciences, 2024

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.

Nair P et al.

Journal of Pediatric Genetics, 2019

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

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

Harripaul R et al.

Molecular Psychiatry, 2018

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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."