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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STAT1

Variant:p.V339fs

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STAT1

NM_007315.4:p.V339fs

hg38:chr2:190991250 GAC>N

Associated Papers

Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency.

Gothe F et al.

The Journal of Allergy and Clinical Immunology, 2022

35182547 (PubMed )

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