Gene table: search width pubmed_id = 31403083


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

protein
All allelic disease phenotypes - locus/disease symbols
Rimmed vacuole myopathy - (AD)
4.27
31403083
HSPB8 (12q24.23)
Heat shock 27kDa protein 8
* Neuropathy, distal hereditary motor, type II - HMN2A
* Rimmed vacuole myopathy
* Charcot-Marie-Tooth neuropathy Type 2L - CMT2L