Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C1272*
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VWF

NM_000552.5:p.C1272*

Associated Papers

Biallelic Deletion of Pxdn in Mice Leads to Anophthalmia and Severe Eye Malformation.

Kim HK et al.

International Journal of Molecular Sciences, 2019

Peroxidasin is essential for eye development in the mouse.

Yan X et al.

Human Molecular Genetics, 2014

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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."