Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.L1446P
Back to variants list

VWF

NM_000552.5:p.L1446P

Associated Papers

Inhibition of the Hypoxia-Inducible Factor 1α-Induced Cardiospecific HERNA1 Enhance-Templated RNA Protects From Heart Disease.

Mirtschink P et al.

Circulation, 2019

30922078 (PubMed )
Supplement: cir-139-2778-s001.pdf

A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Veyradier A et al.

Medicine, 2016

Functional display of platelet-binding VWF fragments on filamentous bacteriophage.

Yee A et al.

Plos One, 2013

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

A new L1446P mutation is responsible for impaired von Willebrand factor synthesis, structure, and function.

Casonato A et al.

The Journal of Laboratory and Clinical Medicine, 2004

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."