Varaico: Literature-Extracted Genetic Variants

Gene:NHEJ1
Variant:p.L179_K180delFs
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NHEJ1

NM_024782.3:p.L179_K180delFs

Associated Papers

Coexistent TBX1 mutation and chromosomal 20q13.13-q13.2 duplication in an infant with abnormal T-cell receptor rearrangement circle newborn screening results.

Lam JK et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2019

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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."