Gene table: search width pubmed_id = 24334604


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

protein
All allelic disease phenotypes - locus/disease symbols
Bethlem myopathy 2 - (AD)
2.10
24334604
COL12A1 (6q13-q14)
collagen type XII alpha 1 chain
* Ullrich congenital muscular dystrophy 2 - UCMD2
* Bethlem myopathy 2 - BTHLM2
* COL12A1-related congenital muscular dystrophy