Varaico: Literature-Extracted Genetic Variants

Gene:MCFD2
Variant:p.E103_E104Splc
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MCFD2

NM_139279.6:p.E103_E104Splc

Associated Papers

Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.

Preisler B et al.

Journal of Clinical Medicine, 2021

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.

Zhang B et al.

Blood, 2008

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.

Zhang B et al.

Nature Genetics, 2003

[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."