Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.F477L
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SERPING1

NM_000062.3:p.F477L

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Clinical and genetic features of hereditary angioedema with and without C1-inhibitor (C1-INH) deficiency in Japan.

Hashimura C et al.

Allergy, 2021

Genotype-phenotype correlations in Brazilian patients with hereditary angioedema due to C1 inhibitor deficiency.

Maia LSM et al.

Allergy, 2019

Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema.

Veronez CL et al.

Frontiers in Medicine, 2019

New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.

Cagini N et al.

Biological Chemistry, 2016

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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."