Gene table: search width pubmed_id =


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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 - (AD)
2.3
19949035
COL6A2 (21q22.3)
Alpha 2 type VI collagen
* myosclerosis, autosomal recessive
* Bethlem myopathy
* Ullrich scleroatonic muscular dystrophy - UCMD