Varaico: Literature-Extracted Genetic Variants

Gene:VANGL1
Variant:p.E347A
Back to variants list

VANGL1

NM_138959.3:p.E347A

Associated Papers

Functional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.

Biterge Sut B

Birth Defects Research, 2025

Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect.

Liu Y et al.

Molecular Genetics & Genomic Medicine, 2023

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.

Provenzano A et al.

Human Genetics, 2021

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

Association between VANGL1 gene polymorphisms and neural tube defects.

Cai C et al.

Neuropediatrics, 2014

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."