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Mashup Score: 1GATA2 deficiency associated with copy number variation: A reference for considering inborn errors of immunity - 2 year(s) ago
Deletions and duplications of chromosomal DNA fragments, alongside inversions and translocations, are collectively termed copy number variants (CNVs). A significant contribution to human genome variability can be attributed to CNVs, which are estimated to account for 4.8% to 9.7% of the human genome.1 Copy number variants have three potential implications: no phenotypic effect, an adaptive trait,…
Categories: Allergy-Immunology, Latest HeadlinesTweet
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Mashup Score: 2Source: academic.oup.comCategories: Infectious Disease, Latest HeadlinesTweet
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Mashup Score: 0Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome - 2 year(s) ago
Abstract. The syndrome of monocytopenia, B-cell and NK-cell lymphopenia, and mycobacterial, fungal, and viral infections is associated with myelodysplasia, cyto
Source: American Society of HematologyCategories: Infectious Disease, Latest HeadlinesTweet
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