Varaico: Literature-Extracted Genetic Variants

Gene:VANGL1
Variant:p.F153S
Back to variants list

VANGL1

NM_138959.3:p.F153S

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

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

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

Bartsch O et al.

Molecular Syndromology, 2012

Transmembrane topology of mammalian planar cell polarity protein Vangl1.

Iliescu A et al.

Biochemistry, 2011

Novel mutations in VANGL1 in neural tube defects.

Kibar Z et al.

Human Mutation, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."