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This null allele revealed that Artemis is not an essential protein for viability in humans, in contrast to XRCC4 or DNA ligase IV. 377–379 A founder mutation, a homozygous nonsense mutation in exon 8 of the Artemis gene, was identified in the Athabascan SCID patients 380; other mutations, including amino acid substitutions 381,382 and an 8-bp insertion in exon …

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