Varaico: Literature-Extracted Genetic Variants

Gene:DACT1
Variant:p.R45W
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DACT1

NM_001079520.2:p.R45W

Associated Papers

Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.

Christians A et al.

Human Genetics, 2023

36066768 (PubMed )
Supplement: 439_2022_2481_MOESM1_ESM.pdf

Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.

Webb BD et al.

Human Mutation, 2017

Identification of novel rare mutations of DACT1 in human neural tube defects.

Shi Y et al.

Human Mutation, 2012

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

[A novel mutation in β-globin gene of a patient with β-thalassemia].

Peng YS et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2012

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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."