Varaico: Literature-Extracted Genetic Variants

Gene:PLOD2
Variant:p.P653R
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PLOD2

NM_182943.3:p.P653R

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

Abnormal Bone Collagen Cross-Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations.

Gistelinck C et al.

Jbmr Plus, 2021

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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."