Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.G120_S121del2
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SERPING1

NM_000062.3:p.G120_S121del2

Associated Papers

Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.

Grombirikova H et al.

Journal of Clinical Immunology, 2023

Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.

Ballonová L et al.

Frontiers in Genetics, 2023

37470035 (PubMed )
Supplement: Table1.XLSX › Table_S1_patient_classification

Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.

Wang X et al.

Hereditas, 2022

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