Varaico: Literature-Extracted Genetic Variants

Gene:DACT1
Variant:p.D142G
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DACT1

NM_001079520.2:p.D142G

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 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."