Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
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J Clin Invest. 2018 Dec 3;128(12):5489-5504. doi: 10.1172/JCI99629. Epub 2018 Nov 5.
J Clin Invest. 2018.
PMID: 30395541
Free PMC article.