Varaico: Literature-Extracted Genetic Variants

Gene:VWA1
Variant:p.R302Q
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VWA1

NM_022834.5:p.R302Q

Associated Papers

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM

vwa1 Knockout in Zebrafish Causes Abnormal Craniofacial Chondrogenesis by Regulating FGF Pathway.

Niu X et al.

Genes, 2023

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.

Tingaud-Sequeira A et al.

Journal of Medical Genetics, 2022

A Mutation in VWA1, Encoding von Willebrand Factor A Domain-Containing Protein 1, Is Associated With Hemifacial Microsomia.

Wang Y et al.

Frontiers in Cell and Developmental Biology, 2020

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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."