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Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema

Laura Batlle-Masó1,2,3, Kornelia Neveling4, Johana Gil-Serrano5,6

  • 1Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.

Journal of Clinical Immunology
|March 28, 2026
PubMed
Abstract

No abstract available in PubMed .

Keywords:
C1 inhibitor deficiencyHereditary angioedemaSINE-VNTR-Alu (SVA) elementmobile elementsoptical genome mappingstructural variants

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