Associated Papers
Practical challenges for functional validation of STAT1 gain of function genetic variants.
Albuquerque AS et al.
Clinical and Experimental Immunology, 2023
Cerebral aneurysm in three pediatric patients with STAT1 gain-of-function mutations.
Bierman-Chow S et al.
Journal of Neurology, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.
Okada S et al.
Journal of Clinical Immunology, 2020
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