Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.R306Splc
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SERPINA1

NM_000295.5:p.R306Splc

Associated Papers

Novel SERPINA1 Alleles Identified through a Large Alpha-1 Antitrypsin Deficiency Screening Program and Review of Known Variants.

Wiesemann GS et al.

Chronic Obstructive Pulmonary Diseases (miami, Fla.), 2023

Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency.

Kueppers F et al.

Bmc Medical Genetics, 2019

[Familial hypercholesterolemia in St. Petersburg: diversity of mutations argues against a strong founder effect].

Zakharova FM et al.

Genetika, 2007

[Management of cesarean section under replacement therapy with factor VIII concentrates in a pregnant case with congenital combined deficiency of factor V and factor VIII].

Ueno H et al.

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1991

[Case report of congenital deficiency of factor V and factor VIII].

Vujaklija-Stipanović K et al.

Bilten Za Hematologiju I Transfuziju, 1979

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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."