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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IFNAR1

Variant:p.V225fs

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IFNAR1

NM_000629.3:p.V225fs

hg38:chr21:33345246 TT>N

Associated Papers

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.

Bastard P et al.

The Journal of Experimental Medicine, 2022

35442418 (PubMed )

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