Associated Papers
Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.
Hoffmann M et al.
Scientific Reports, 2025
39979591 (PubMed )
Supplement: 41598_2025_90788_MOESM2_ESM.docx
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37808701 (PubMed )
Supplement: media-2.xlsx › T6
Biallelic TRAF3IP2 variants causing chronic mucocutaneous candidiasis in a child harboring a STAT1 variant.
Blanco Lobo P et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2021
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