Varaico: Literature-Extracted Genetic Variants

Gene:VANGL2
Variant:p.L515L
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VANGL2

NM_020335.3:p.L515L

Associated Papers

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Derrick CJ et al.

Human Molecular Genetics, 2024

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

VANGL2 mutations in human cranial neural-tube defects.

Lei YP et al.

The New England Journal of Medicine, 2010

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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."