Fraction of all mutations causing genetic diseases found on CpG sites

Value 23 %
Organism Human Homo sapiens
Reference Baute J, Depicker ABase excision repair and its role in maintaining genome stability.Crit Rev Biochem Mol Biol. 2008 Jul-Aug43(4):239-76.PubMed ID18756381
Primary Source Krawczak M, Ball EV, Cooper DN.Base excision repair and its role in maintaining genome stability.Crit Rev Biochem Mol Biol. 2008 Jul-Aug43(4):239-76PubMed ID9683596
Comments 90% of these mutations are C-to-T and G-to-A transitions
Entered by Uri M
ID 102466