G1100R : Biochemical assays

The G1100R substitution in human POLD1 reduces the polymerase activity of DNA polymerase δ in vitro.

• Oh, D.-Y. et al. POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features. Hum Mutat 41(5):913-920 (2020). https://pubmed.ncbi.nlm.nih.gov/31944473/