Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.G742E
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VWF

NM_000552.5:p.G742E

Associated Papers

Classification and characterization of hereditary types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (unclassifiable) von Willebrand disease.

Michiels JJ et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2006

Molecular modeling of ligand and mutation sites of the type A domains of human von Willebrand factor and their relevance to von Willebrand's disease.

Jenkins PV et al.

Blood, 1998

Rapid mutation screening in type 2A von Willebrand's disease using universal heteroduplex generators.

Culpan D et al.

British Journal of Haematology, 1997

Analysis of Arg834Gln and Val902Glu type 2A von Willebrand disease mutations: studies with recombinant von Willebrand factor and correlation with patient characteristics.

Englender T et al.

Blood, 1996

Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations.

Lyons SE et al.

Blood, 1994

Molecular genetics of von Willebrand disease.

Ginsburg D et al.

Blood, 1992

Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations.

Lyons SE et al.

The Journal of Biological Chemistry, 1992

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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."