Varaico: Literature-Extracted Genetic Variants

Gene:WNT1
Variant:p.E189delFs
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WNT1

NM_005430.4:p.E189delFs

Associated Papers

Mechanisms of Bone Fragility: From Osteogenesis Imperfecta to Secondary Osteoporosis.

El-Gazzar A et al.

International Journal of Molecular Sciences, 2021

Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.

Besio R et al.

The Febs Journal, 2019

The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations.

Joeng KS et al.

Human Molecular Genetics, 2014

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.

Pyott SM et al.

American Journal of Human Genetics, 2013

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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."