Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC12
Variant:p.E49delFs
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TRAPPC12

NM_016030.6:p.E49delFs

Associated Papers

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

Aslanger AD et al.

Neuropediatrics, 2020

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.

Milev MP et al.

Scientific Reports, 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."