Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood.
Hazar E et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2024
Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity.
Meric Z et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1
Role of RNA Alternative Splicing in T Cell Function and Disease.
Banerjee S et al.
Genes, 2023
37895245 (PubMed )
Supplement: genes-14-01896-s001.zip › Supplementary_Table.xlsx › Supplementary_Table
Case Report: Rubella Virus-Induced Cutaneous Granulomas in Two Pediatric Patients With DNA Double Strand Breakage Repair Disorders - Outcome After Hematopoietic Stem Cell Transplantation.
Baumann U et al.
Frontiers in Immunology, 2022
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
Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide.
Ijspeert H et al.
Genes and Immunity, 2011
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