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
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.
Abaji M et al.
Journal of Medical Genetics, 2023
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function.
Al-Deri N et al.
Journal of Medical Genetics, 2021
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