Varaico: Literature-Extracted Genetic Variants

Gene:LRP5
Variant:p.N198Y
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LRP5

NM_002335.4:p.N198Y

Associated Papers

LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature.

De Mattia G et al.

Archives of Osteoporosis, 2023

Novel mutation in LRP5 gene cause rare osteosclerosis: cases studies and literature review.

Zhao D et al.

Molecular Genetics and Genomics : Mgg, 2023

LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low-Density Lipoprotein Receptor-Related Protein 6.

Whyte MP et al.

Jbmr Plus, 2023

Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder.

Yamada M et al.

American Journal of Medical Genetics. Part A, 2021

The Genetic Architecture of High Bone Mass.

Gregson CL et al.

Frontiers in Endocrinology, 2020

High bone mass due to novel LRP5 and AMER1 mutations.

Costantini A et al.

European Journal of Medical Genetics, 2017

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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."