Varaico: Literature-Extracted Genetic Variants

Gene:NHEJ1
Variant:p.D177Splc
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NHEJ1

NM_024782.3:p.D177Splc

Associated Papers

NHEJ1 Splice Variants Associated With Bone Marrow Failure and Hematologic Malignancy.

Weinstock NI et al.

Pediatric Blood & Cancer, 2025

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl12.xlsx › Blad1

Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center.

Al Farsi T et al.

Frontiers in Immunology, 2022

A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening.

Al Sukaiti N et al.

Frontiers in Immunology, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."