Gene table: search width pubmed_id = 23798481


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

protein
All allelic disease phenotypes - locus/disease symbols
Polyglucosan Body Myopathy 1 with or without immunodeficiency - (AR)
9.10
23798481
RBCK1 (20p13)
RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1)
* Polyglucosan Body Myopathy 1 with or without immunodeficiency - PGBM1