
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency
Keywords: V(D)J recombination; nonhomologous end-joining; DNA repair; ARTEMIS deficiency; DCLRE1C mutations; severe combined immunodeficiency; A-MuLV; Abelson murine leukemia virus; ExAC; Exome Aggregation Consortium; GFP; Green fluorescent protein; IR; Ionizing ra