Varaico: Literature-Extracted Genetic Variants

Gene:LRP5
Variant:p.W117*
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LRP5

NM_002335.4:p.W117*

Associated Papers

Novel Homozygous Nonsense Mutation in the LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome

Heidari A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2023

Clinical Response to Treatment with Teriparatide in an Adolescent with Osteoporosis-Pseudoglioma Syndrome (OPPG): A Case Report.

Homaei A et al.

International Journal of Endocrinology and Metabolism, 2022

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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."