Varaico: Literature-Extracted Genetic Variants

Gene:VANGL1
Variant:p.R175Q
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VANGL1

NM_138959.3:p.R175Q

Associated Papers

Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.

Merello E et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2015

Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects.

Bartsch O et al.

Molecular Syndromology, 2012

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.

Seo JH et al.

Human Molecular Genetics, 2011

Novel mutations in VANGL1 in neural tube defects.

Kibar Z et al.

Human Mutation, 2009

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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."