Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.A168D
Back to variants list

SERPING1

NM_000062.3:p.A168D

Associated Papers

Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene.

Markocsy A et al.

The World Allergy Organization Journal, 2024

Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.

Grombirikova H et al.

Journal of Clinical Immunology, 2023

Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.

Ballonová L et al.

Frontiers in Genetics, 2023

37470035 (PubMed )
Supplement: Table1.XLSX › Table_S1_patient_classification

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."