Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC11
Variant:p.Q284P
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TRAPPC11

NM_021942.6:p.Q284P

Associated Papers

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

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.

Larson AA et al.

Skeletal Muscle, 2018

Early-Life Epilepsies and the Emerging Role of Genetic Testing.

Berg AT et al.

Jama Pediatrics, 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."