Gene table: search width pubmed_id = 18852439


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

protein
All allelic disease phenotypes - locus/disease symbols
Myosclerosis, congenital - (AR)
2.12
18852439
COL6A2 (21q22.3)
Alpha 2 type VI collagen
* myosclerosis, autosomal recessive
* LGMDR22
* LGMDD5
* Bethlem myopathy
* Ullrich scleroatonic muscular dystrophy - UCMD1