Varaico: Literature-Extracted Genetic Variants

Gene:LRP6
Variant:p.W764*
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LRP6

NM_002336.3:p.W764*

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

EDA Variants Are Responsible for Approximately 90% of Deciduous Tooth Agenesis.

Su L et al.

International Journal of Molecular Sciences, 2024

Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing.

Yue H et al.

Molecular Genetics & Genomic Medicine, 2022

Novel LRP6 Mutations Causing Non-Syndromic Oligodontia.

Lee Y et al.

Journal of Personalized Medicine, 2022

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Denisova E et al.

Cancer Gene Therapy, 2022

34045664 (PubMed )
Supplement: 41417_2021_347_MOESM4_ESM.xls › C000-6KNGDL

Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis.

Chu KY et al.

Journal of Personalized Medicine, 2021

34834569 (PubMed )
Supplement: jpm-11-01217-s001.zip › jpm-1475506-supplementary.pdf

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

Zhang L et al.

Npj Genomic Medicine, 2021

34759310 (PubMed )
Supplement: 41525_2021_262_MOESM1_ESM.pdf

Lrp6 Dynamic Expression in Tooth Development and Mutations in Oligodontia.

Yu M et al.

Journal of Dental Research, 2021

Investigation of a Novel LRP6 Variant Causing Autosomal-Dominant Tooth Agenesis.

Huang YX et al.

Frontiers in Genetics, 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."