Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC4
Variant:p.L64P
Back to variants list

TRAPPC4

NM_016146.6:p.L64P

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 evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.

Majethia P et al.

Annals of Human Genetics, 2022

Severe Microcephaly and Rapid Deterioration Due to Cortical Atrophy in Early Infancy: Consider TRAPPC4 Trappopathy.

Olmez A et al.

Annals of Indian Academy of Neurology, 0

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."