Varaico: Literature-Extracted Genetic Variants

Gene:LRP6
Variant:p.R385P
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LRP6

NM_002336.3:p.R385P

Associated Papers

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

Intarak N et al.

International Dental Journal, 2026

Genetic complexity underlies clinical heterogeneity: YWTD β-propeller mutations and second-hit modifier mutations in LRP6-related tooth agenesis and ectodermal dysplasia in human.

Dong X et al.

Genes & Diseases, 2025

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

Novel LRP6 Mutations Causing Non-Syndromic Oligodontia.

Lee Y et al.

Journal of Personalized Medicine, 2022

Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans.

Zhang L et al.

Npj Genomic Medicine, 2021

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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."