Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.E997A
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NBAS

NM_015909.4:p.E997A

Associated Papers

A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.

Al Qureshah F et al.

The Journal of Experimental Medicine, 2025

39680367 (PubMed )
Supplement: jem_20241413_tables3.xlsx › Sheet1
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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."