Associated Papers
Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility.
Elbadry MI et al.
Annals of Hematology, 2025
40047910 (PubMed )
Supplement: 277_2025_6257_MOESM1_ESM.pdf
Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires.
Frizinsky S et al.
Frontiers in Pediatrics, 2022
Select a paper to view details