Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC6A
Variant:p.Y93N
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TRAPPC6A

NM_001270891.2:p.Y93N

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

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

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.

Mohamoud HS et al.

Scientific Reports, 2018

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