Keyphrases
STXBP2
81%
Hemophagocytic Lymphohistiocytosis
71%
Degranulation
54%
Myositis-specific Antibodies
41%
Euroline
37%
Molecular Analysis
37%
Clinical Practice
37%
Antibody Detection
37%
Composite Score
37%
Comprehensive Dataset
37%
Biallelic mutations
37%
Immunoblot
37%
Differential Diagnosis
37%
Commercial Kits
37%
Idiopathic Inflammatory Myopathies
37%
Hemophagocytic Syndrome
37%
Langerhans Cell Histiocytosis
37%
Idiopathic Inflammatory Myositis
32%
Genetic Variants
25%
Primary Immunodeficiency
18%
TIF1
16%
Particle-based
16%
Melanoma Differentiation-associated Gene 5 (MDA5)
16%
Multi-analyte
16%
STX11
15%
RBL-2H3 Cells
12%
Dermatomyositis
11%
Autoantibodies
11%
UNC13D
10%
Exon
10%
PRF1
10%
HMG-CoA Reductase
10%
PL-12
10%
Life-threatening
10%
Cytotoxicity
9%
Compound Heterozygous mutation
9%
Degranulation Assay
8%
Protein Expression
8%
Hyperinflammation
8%
Method Validation
7%
Immunoblot Assay
7%
Autosomal Recessive
6%
Frameshift
6%
Uncertain Significance
6%
GnomAD
6%
Specific mutation
6%
Grant-free Access
6%
Population Allele Frequencies
6%
Deep-intronic
6%
Django Framework
6%
Immunology and Microbiology
Hemophagocytic Lymphohistiocytosis
100%
Degranulation
64%
Myositis
42%
Antibodies
42%
Immunology
40%
Langerhans Cell
37%
Western Blot
37%
Exon
31%
Cytotoxicity
30%
Immunodeficiency
18%
Autoantibodies
18%
Dermatomyositis
18%
Protein Expression
17%
RBL-2H3 Cell Line
16%
Heterozygosity
12%
Homozygosity
12%
Viral Disease
12%
Missense Mutation
12%
Splicing Defect
12%
Genetic Transfection
12%
Immunity
12%
Prevalence
9%
MDA5
8%
Autosomal Recessive Inheritance
6%
Genetic Heterogeneity
6%
Gene Frequency
6%
Protein Tertiary Structure
6%
Pathogenicity
6%
Indel Mutation
6%
Genetic Background
5%
Protein Interaction
5%
Natural Killer Cell
5%
Adaptive Immune System Function
5%
Genetic Susceptibility
5%
Engraftment
5%
