Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.E451K
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SERPING1

NM_000062.3:p.E451K

Associated Papers

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

Wang X et al.

Hereditas, 2022

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Ponard D et al.

Human Mutation, 2020

Hereditary angioedema nationwide study in Slovenia reveals four novel mutations in SERPING1 gene.

Rijavec M et al.

Plos One, 2013

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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."