Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.M1T
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SERPINA1

NM_000295.5:p.M1T

Associated Papers

Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.

Watanabe N et al.

Journal of Leukocyte Biology, 2021

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.

Neerman-Arbez M et al.

Human Mutation, 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

PI Scologne: a new variant in the alpha-1-antitrypsin system.

Weber W et al.

Human Genetics, 1988

[Electrophoretic alpha 1-antitrypsin variation in the Swiss population].

Scheffrahn W et al.

Anthropologischer Anzeiger; Bericht Uber Die Biologisch-anthropologische Literatur, 1982

[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."