Varaico: Literature-Extracted Genetic Variants

Gene:LRP6
Variant:p.E594*
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LRP6

NM_002336.3:p.E594*

Associated Papers

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

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Barrio-Hernandez I et al.

Nature Genetics, 2023

36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence

Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation.

Ross JN et al.

Oral Diseases, 2023

Novel LRP6 Mutations Causing Non-Syndromic Oligodontia.

Lee Y et al.

Journal of Personalized Medicine, 2022

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

A novel missense mutation of LRP6 identified by whole-exome sequencing in a Chinese family with non-syndromic tooth agenesis.

Wang H et al.

Orthodontics & Craniofacial Research, 2021

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

Huang YX et al.

Frontiers in Genetics, 2021

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Massink MP et al.

American Journal of Human Genetics, 2015

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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."