Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.E417Splc
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SERPING1

NM_000062.3:p.E417Splc

Associated Papers

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

Drouet C et al.

Frontiers in Allergy, 2022

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Ponard D et al.

Human Mutation, 2020

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

The Turkish Hereditary Angioedema Pilot Study (TURHAPS): the first Turkish series of hereditary angioedema.

Kesim B et al.

International Archives of Allergy and Immunology, 2011

Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.

Gösswein T et al.

Cytogenetic and Genome Research, 2008

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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."