Article

Novel Variants and Mechanisms in Atypical Hereditary Angioedema: A Chinese Multicenter Study

2025-12-26

Abstract excerpt

<h4>Background: </h4> : Hereditary angioedema (HAE) is characterized by significant genetic heterogeneity. While rare variants in MYOF and HS3ST6 have been indicated in the Chinese population, their pathogenic spectrum, clinical phenotypes, and biochemical associations remain insufficiently elucidated. This study aimed to identify novel pathogenic variants and investigate genotype-phenotype correlations, specifi...

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Literature Corpus work: 11419fc0-6673-5556-8bcb-492249eb5493
DOI: 10.22541/au.176675056.63979689/v1

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