Gene table: search width pubmed_id = 16130093


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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 22 - (AR)
1.38
12840783
16130093
COL6A1 (21q22.3)
Alpha 1 type VI collagen
* Bethlem myopathy
* Ullrich congenital muscular dystrophy - UCMD1
* LGMDR22
* LGMDD5