Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.T479T
Back to variants list

F8

NM_000132.4:p.T479T

Associated Papers

Type 2A and 2M von Willebrand Disease: Differences in Phenotypic Parameters According to the Affected Domain by Disease-Causing Variants and Assessment of Pathophysiological Mechanisms.

Woods AI et al.

Seminars in Thrombosis and Hemostasis, 2021

Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease.

Tischer A et al.

Biophysical Journal, 2014

Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.

Gadisseur A et al.

Acta Haematologica, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."