Varaico: Literature-Extracted Genetic Variants

Gene:CFP
Variant:p.P204L
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CFP

NM_001145252.3:p.P204L

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

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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