Varaico: Literature-Extracted Genetic Variants

Gene:LRP5
Variant:p.A97V
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LRP5

NM_002335.4:p.A97V

Associated Papers

An analysis of LRP5 gene frequencies in infants with familial exudative vitreoretinopathy in Chongqing and Urumqi.

Cen C et al.

Medicine, 2025

Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy.

Mao J et al.

Annals of Medicine, 2022

Mutation spectrum in a cohort with familial exudative vitreoretinopathy.

Qu N et al.

Molecular Genetics & Genomic Medicine, 2022

Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder.

Yamada M et al.

American Journal of Medical Genetics. Part A, 2021

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

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

Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

Qin M et al.

Human Mutation, 2005

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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."