Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.V147E
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SERPING1

NM_000062.3:p.V147E

Associated Papers

Recessive SERPING1 Variant Leads to Kinin-Kallikrein System Control Failure in a Consanguineous Brazilian Family with Hereditary Angioedema.

Maia LSM et al.

Journal of Clinical Medicine, 2023

Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations).

Nabilou S et al.

Immunological Investigations, 2022

SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.

Drouet C et al.

Frontiers in Allergy, 2022

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