Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.G742R
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VWF

NM_000552.5:p.G742R

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

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

von Willebrand factor: biological function and molecular defects.

Perutelli P et al.

Pediatric Hematology and Oncology, 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."