Varaico: Literature-Extracted Genetic Variants

Gene:TFPI
Variant:p.M1T
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TFPI

NM_006287.6:p.M1T

Associated Papers

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen CA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

[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."