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Article

Definition of mutations in polyautoimmunity.

Journal of autoimmunity - 1 Aug 2016

Johar Angad, Sarmiento-Monroy Juan C, Rojas-Villarraga Adriana, Silva-Lara Maria F, Patel Hardip R, Mantilla Ruben D, Velez Jorge I, Schulte Klaus-Martin, Mastronardi Claudio, Arcos-Burgos Mauricio, Anaya Juan-Manuel

Abstract excerpt

OBJECTIVES: Familial autoimmunity and polyautoimmunity represent extreme phenotypes ideal for identifying major genomic variants contributing to autoimmunity. Whole exome sequencing (WES) and linkage analysis are well suited for this purpose due to its strong resolution upon familial segregation patterns of functional protein coding and splice variants. The primary objective of this study was to identify...

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Source

Identifiers

PMID: 27209085
DOI: 10.1016/j.jaut.2016.05.003

Genes

SRA1
ABCB8
PLAUR
DHX34

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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