Varaico: Literature-Extracted Genetic Variants

Gene:MCFD2
Variant:p.M1T
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MCFD2

NM_139279.6:p.M1T

Associated Papers

Molecular Aspects of Rare Coagulation Factor Deficiencies.

Tourbih H et al.

Cureus, 2025

Combined deficiency of coagulation factors V and VIII: an update.

Zheng C et al.

Seminars in Thrombosis and Hemostasis, 2013

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

Review of clinical, biochemical and genetic aspects of combined factor V and factor VIII deficiency, and report of a new affected family.

Faioni EM et al.

Thrombosis Research, 2003

Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.

Neerman-Arbez M et al.

Blood, 1999

[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."