Varaico: Literature-Extracted Genetic Variants

Gene:MCFD2
Variant:p.V100D
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MCFD2

NM_139279.6:p.V100D

Associated Papers

Separate roles of LMAN1 and MCFD2 in ER-to-Golgi trafficking of FV and FVIII.

Zhang Y et al.

Blood Advances, 2023

Deciphering the impact of somatic mutations in exon 20 and exon 9 of PIK3CA gene in breast tumors among Indian women through molecular dynamics approach.

Sudhakar N et al.

Journal of Biomolecular Structure & Dynamics, 2016

Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency.

Hejer E et al.

La Tunisie Medicale, 2012

Unveiling the unfolding pathway of F5F8D disorder-associated D81H/V100D mutant of MCFD2 via multiple molecular dynamics simulations.

Hamza A et al.

Journal of Biomolecular Structure & Dynamics, 2012

Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII.

Elmahmoudi H et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011

Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiency.

Abdallah HE et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010

[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

Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency.

Abdallah HE et al.

Blood Cells, Molecules & Diseases, 0

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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."