Varaico: Literature-Extracted Genetic Variants

Gene:NHEJ1
Variant:p.D166fs
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NHEJ1

NM_024782.3:p.D166fs

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

Cernunnos defect in an Iranian patient with T- B+ NK+ severe combined immunodeficiency: A case report and review of the literature.

Jamee M et al.

Molecular Genetics & Genomic Medicine, 2022

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