Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.A297Splc
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SERPING1

NM_000062.3:p.A297Splc

Associated Papers

De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency.

Batlle-Masó L et al.

Frontiers in Immunology, 2025

A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency.

Vatsiou S et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 2020

Hereditary angioedema in Japan: genetic analysis of 13 unrelated cases.

Yamamoto T et al.

The American Journal of the Medical Sciences, 2012

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