Associated Papers
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1
Lentiviral Gene Therapy for Artemis-Deficient SCID.
Cowan MJ et al.
The New England Journal of Medicine, 2022
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
Felgentreff K et al.
The Journal of Allergy and Clinical Immunology, 2015
The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.
Lee PP et al.
Clinical Immunology (orlando, Fla.), 2013
The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
Pannicke U et al.
Human Mutation, 2010
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