Varaico: Literature-Extracted Genetic Variants

Gene:LRP6
Variant:p.S127T
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LRP6

NM_002336.3:p.S127T

Associated Papers

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

Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis.

Chu KY et al.

Journal of Personalized Medicine, 2021

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

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Giau VV et al.

Scientific Reports, 2019

31182772 (PubMed )
Supplement: 41598_2019_44848_MOESM1_ESM.pdf

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."