Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibo...
Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
Predominantly antibody deficiency (PAD) is the most prevalent form of primary immunodeficiency, and is characterized by broad clinical, immunological and genetic heterogeneity. Utilizing the current gold standard of whole exome sequencing for diagnosis, pathogenic gene variants are only identified in less than 20% of patients. While elucidation of...
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Full title
Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8027216
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8027216
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ISSN
1672-7681,2042-0226
E-ISSN
2042-0226
DOI
10.1038/s41423-020-00520-8
