Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC12
Variant:p.E121fs
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TRAPPC12

NM_016030.6:p.E121fs

Associated Papers

Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.

Aslanger AD et al.

Neuropediatrics, 2020

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

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

Milev MP et al.

American Journal of Human Genetics, 2017

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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."