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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IFNGR2

Variant:p.C266fs

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IFNGR2

NM_005534.4:p.C266fs

hg38:chr21:33432788 T>TN

Associated Papers

A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations.

Hoyos-Bachiloglu R et al.

The Journal of Clinical Investigation, 2017

29106381 (PubMed )

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