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Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema.
Shchagina O, Gracheva E, Chukhrova A, Bliznets E, Bychkov I, Kutsev S, Polyakov A. Shchagina O, et al. Biomedicines. 2023 Dec 28;12(1):72. doi: 10.3390/biomedicines12010072. Biomedicines. 2023. PMID: 38255179 Free PMC article.
In the current study, we present the results of functional analysis of two previously non-described variants in the SERPING1 gene (NM_000062.3) affecting intron 4: c.686-1G>A and c.685+4dup, which were detected in members of two Russian families with autosomal dominant …
In the current study, we present the results of functional analysis of two previously non-described variants in the SERPING1 gene (NM_000062 …