Gene table: search width pubmed_id = 19299310


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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-dystroglycanopathy (congenital with impaired intellectual development), type B6 - (AR)
2.37
12966029
19299310
LARGE1 (22q12.3)
LARGE xylosyl- and glucuronyltransferase 1
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6