Varaico: Literature-Extracted Genetic Variants

Gene:LRP6
Variant:p.V483I
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LRP6

NM_002336.3:p.V483I

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

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

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Primary osteoporosis without features of OI in children and adolescents: clinical and genetic characteristics.

Laine CM et al.

American Journal of Medical Genetics. Part A, 2012

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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."