Varaico: Literature-Extracted Genetic Variants

Gene:LRP6
Variant:p.K82N
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LRP6

NM_002336.3:p.K82N

Associated Papers

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

Intarak N et al.

International Dental Journal, 2026

Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.

Jakubek YA et al.

American Journal of Human Genetics, 2025

39809269 (PubMed )
Supplement: mmc2.xlsx › S17

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

NRDE2 deficiency impairs homologous recombination repair and sensitizes hepatocellular carcinoma to PARP inhibitors.

Wang Y et al.

Cell Genomics, 2024

38697125 (PubMed )
Supplement: mmc5.xlsx › Sheet_1

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

Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.

Shi M et al.

Stroke and Vascular Neurology, 2022

34880113 (PubMed )
Supplement: svn-2021-001157supp001.pdf

Monogenic basis of young-onset cryptogenic stroke: a multicenter study.

Yuan WZ et al.

Annals of Translational Medicine, 2022

Targeted next generation sequencing of nine osteoporosis-related genes in the Wnt signaling pathway among Chinese postmenopausal women.

Li C et al.

Endocrine, 2020

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s007.xlsx › Table_S4

Mutant LRP6 Impairs Endothelial Cell Functions Associated with Familial Normolipidemic Coronary Artery Disease.

Guo J et al.

International Journal of Molecular Sciences, 2016

27455246 (PubMed )
Supplement: ijms-17-01173-s001.pdf

The LRP6 rs2302685 polymorphism is associated with increased risk of myocardial infarction.

Xu S et al.

Lipids in Health and Disease, 2014

Functional analysis LRP6 novel mutations in patients with coronary artery disease.

Xu Y et al.

Plos One, 2014

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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."