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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IFIH1

Variant:p.E794del1

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IFIH1

NM_022168.4:p.E794del1

hg38:chr2:162273865 CCTT>C

Associated Papers

MDA5 gain-of-function associated with a Glu794del mutation.

Wong C et al.

Journal of Clinical Immunology, 2024

39356338 (PubMed )

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