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Article

Diabetes With Multiple Autoimmune and Inflammatory Conditions Linked to an Activating SKAP2 Mutation.

Diabetes care - 1 Aug 2021

Rutsch Niklas, Chamberlain Chester E, Dixon Wesley, Spector Lauren, Letourneau-Freiberg Lisa R, Lwin Wint W, Philipson Louis H, Zarbock Alexander, Saintus Karline, Wang Juehu, German Michael S, Anderson Mark S, Lowell Clifford A

Abstract excerpt

OBJECTIVE: Multiple genome-wide association studies have identified a strong genetic linkage between the SKAP2 locus and type 1 diabetes (T1D), but how this leads to disease remains obscure. Here, we characterized the functional consequence of a novel SKAP2 coding mutation in a patient with T1D to gain further insight into how this impacts immune tolerance. RESEARCH DESIGN AND METHODS: We identified a 24-year-old...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34172489
DOI: 10.2337/dc20-2317
PMCID: PMC8385470

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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