Varaico: Literature-Extracted Genetic Variants

Gene:FZD6
Variant:p.R511H
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FZD6

NM_003506.4:p.R511H

Associated Papers

Targeted Re-Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal Models.

Romano F et al.

Birth Defects Research, 2025

Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.

Wang M et al.

Cells, 2019

Polymorphisms in FZD3 and FZD6 genes and risk of neural tube defects in a northern Han Chinese population.

Shi OY et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2014

A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects.

Juriloff DM et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012

FZD6 is a novel gene for human neural tube defects.

De Marco P et al.

Human Mutation, 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."