S605del : Biochemical assays

The S605 deletion in human POLD1 eliminates the polymerase activity of DNA polymerase δ.

• Weedon, M.N. et al. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet 45, 947-950 (2013). https://pubmed.ncbi.nlm.nih.gov/23770608/