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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STAT2

Variant:p.L308L

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STAT2

NM_005419.4:p.L308L

hg38:chr12:56351311 G>A

Associated Papers

A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.

Gothe F et al.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2022

33252644 (PubMed )

Supplement: ciaa1790_suppl_supplementary_materials.docx

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."