Gene table: search width pubmed_id = 17486094


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

protein
All allelic disease phenotypes - locus/disease symbols
Mitochondrial DNA depletion syndrome 8B (MNGIE type) - (AR)
16.52
17486094
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5
* Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A