Article

In Silico Genetics: Identification of pathogenic nsSNPs in human <i>STAT3</i> gene associated with Job’s syndrome

2019-02-10

Abstract excerpt

<h4>Background</h4> Autosomal dominant hyper-IgE syndrome (AD-HIES) or Job’s syndrome is a rare immunodeficiesncy disease that classically presents in early childhood, characterized by eczematoid dermatitis, characteristic facies, pneumatoceles, hyperextensibility of joints, multiple bone fractures, scoliosis, atopic dermatitis and elevated levels of serum IgE (>2000 IU/ml). The term Autosomal dominant hyper-IgE...

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Literature Corpus work: 568bc0e1-10c7-5e8d-91ba-29873d13779d
DOI: 10.1101/545657

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