Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC11
Variant:p.S429del1
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TRAPPC11

NM_021942.6:p.S429del1

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

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

Wang X et al.

Case Reports in Genetics, 2018

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

Bögershausen N et al.

American Journal of Human Genetics, 2013

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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."