Varaico: Literature-Extracted Genetic Variants

Gene:PLOD2
Variant:p.H687R
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PLOD2

NM_182943.3:p.H687R

Associated Papers

Structure of an Fe2+-binding-deficient mimiviral collagen lysyl hydroxylase.

Chen T et al.

Acta Crystallographica. Section F, Structural Biology Communications, 2025

Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2.

Zhang J et al.

Frontiers in Genetics, 2021

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.

Mumm S et al.

Bone, 2020

SiMPLOD, a Structure-Integrated Database of Collagen Lysyl Hydroxylase (LH/PLOD) Enzyme Variants.

Scietti L et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019

Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information.

Tham E et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2018

Phenotypic Consequences of PLOD2 Mutations in Bruck Syndrome Inform a Collagen Lysyl Hydroxylase Crystal Structure.

Guo HF et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2018

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.

Leal GF et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2018

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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."