Varaico: Literature-Extracted Genetic Variants

Gene:LRP5
Variant:p.R1326H
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LRP5

NM_002335.4:p.R1326H

Associated Papers

Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre.

Rouleau C et al.

Bone Reports, 2022

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

Yamada M et al.

American Journal of Medical Genetics. Part A, 2021

Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.

Li JK et al.

Investigative Ophthalmology & Visual Science, 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."