A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report
Abstract Background Adenosine deaminase 2 (ADA2) deficiency is an inherited autoinflammatory syndrome caused by a defect in the ADA2 gene. Most common manifestations include peripheral vasculopathy, early-onset stroke, immunodeficiency, and haematological manifestations. Patients with pathogenic var...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2022-12-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |