Gene table: search width pubmed_id = 23830518


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Muscular dystrophy, limb-girdle, autosomal recessive 18 - (AR)
1.36
23830518
TRAPPC11 (4q35.1)
Trafficking protein particle complex 11
* Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S
* Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype - CMD