Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC11
Variant:p.Q220_L221Splc
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TRAPPC11

NM_021942.6:p.Q220_L221Splc

Associated Papers

TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.

Munot P et al.

Neuropathology and Applied Neurobiology, 2022

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

Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy.

Wang X et al.

Case Reports in Genetics, 2018

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.

Liang WC et al.

Skeletal Muscle, 2015

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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."