Varaico: Literature-Extracted Genetic Variants

Gene:DVL2
Variant:p.A53V
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DVL2

NM_004422.3:p.A53V

Associated Papers

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

Biterge Sut B

Birth Defects Research, 2025

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets

Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.

De Marco P et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2014

Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects.

De Marco P et al.

Journal of Molecular Neuroscience : Mn, 2013

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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."