Varaico: Literature-Extracted Genetic Variants

Gene:WNT1
Variant:p.C330R
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WNT1

NM_005430.4:p.C330R

Associated Papers

Molecular spectrum of autosomal recessive osteogenesis imperfecta in 93 Italian children with bone fragility: a monocentric experience.

Guarnieri V et al.

Journal of Endocrinological Investigation, 2026

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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."