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Definition of mutations in polyautoimmunity
Angad Johar
, Juan C. Sarmiento-Monroy
, Adriana Rojas-Villarraga
, Maria F. Silva-Lara
, Hardip R. Patel
, Ruben D. Mantilla
, Jorge I. Velez
, Klaus Martin Schulte
, Claudio Mastronardi
, Mauricio Arcos-Burgos
, Juan Manuel Anaya
urosario
School of Medicine and Health Sciences
Center for Autoimmune Diseases Research (CREA)
Research output
:
Contribution to Journal
›
Research Article
›
peer-review
13
Scopus citations
Overview
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Keyphrases
ABCB8
40%
Apoptotic Process
20%
Autoimmune
20%
Autoimmunity
40%
Causative Variant
20%
Coding Variants
20%
DHX34
20%
Extreme Phenotypes
20%
Familial Autoimmunity
40%
Familial Segregation
20%
Filtration
20%
Genetic Linkage
20%
Genetic Linkage Analysis
20%
Genome Analysis
20%
Genome Analysis Toolkit
20%
Genomic Variants
20%
Linkage Analysis
20%
LOD Score
40%
Major Player
20%
MLL4
20%
Multifunctional Protein
20%
Network Analysis
20%
Novel Variants
20%
Pedigree
40%
PLAUR
40%
Polyautoimmunity
100%
Prioritization Method
20%
Proband
20%
Protein-coding Genes
20%
Rare Variants
40%
Sanger Sequencing
20%
Segregation Patterns
20%
Sequence Data
20%
Splice Variant
20%
SR-A1
60%
Strong Signals
20%
Variant Calling
20%
Whole Exome Sequencing
60%
Biochemistry, Genetics and Molecular Biology
Autoimmunity
100%
Dideoxynucleotide Sequencing
20%
Exome Sequencing
80%
Gene Linkage
40%
Genetic Linkage
20%
Genetic Linkage Analysis
20%
Genomics
20%
Linkage Analysis
20%
MLL4
20%
Pedigree
40%
Proband
20%
Rare Variant
40%
Immunology and Microbiology
Autoimmunity
100%
Dideoxynucleotide Sequencing
20%
Genetic Linkage
40%
Pedigree
40%
Whole Exome Sequencing
80%