Varaico: Literature-Extracted Genetic Variants

Gene:LRP6
Variant:p.R32*
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LRP6

NM_002336.3:p.R32*

Associated Papers

LRP6 β-Propeller Destabilization: Novel Variant, Phenotype and Diagnostic Implications in Tooth Agenesis.

Intarak N et al.

International Dental Journal, 2026

Genotype-phenotype analysis and functional study of three novel LRP6 variants in non-syndromic oligodontia.

Yuan Y et al.

Frontiers in Genetics, 2025

40534843 (PubMed )
Supplement: Table2.xlsx › Sheet2

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.

Kim MJ et al.

Orphanet Journal of Rare Diseases, 2024

Mutations in LRP6 highlight the role of WNT signaling in oral exostoses and dental anomalies.

Kantaputra P et al.

Archives of Oral Biology, 2022

Novel LRP6 Mutations Causing Non-Syndromic Oligodontia.

Lee Y et al.

Journal of Personalized Medicine, 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."