Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.P489delFs
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SERPING1

NM_000062.3:p.P489delFs

Associated Papers

Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema.

Iuraşcu MI et al.

Clinical and Translational Allergy, 2023

Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema.

Szabó E et al.

Frontiers in Allergy, 2022

Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.

Loules G et al.

Gene, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."