Gene table: search width pubmed_id = 21310273


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

protein
All allelic disease phenotypes - locus/disease symbols
Myasthenia, congenital, 12, with tubular aggregates - (AR)
11.18
21310273
GFPT1 (2p12-p15)
Glutamine-fructose-6-phosphate transaminase 1
* Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - CMSTA1