Associated Papers
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Justel M et al.
Journal of Medical Genetics, 2023
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Milev MP et al.
Scientific Reports, 2019
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
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