Varaico: Literature-Extracted Genetic Variants

Gene:NODAL
Variant:p.E203K
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NODAL

NM_018055.5:p.E203K

Associated Papers

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.

Dardas Z et al.

Genome Medicine, 2024

A Vietnamese human genetic variation database.

Le VS et al.

Human Mutation, 2019

Novel mutations of NODAL gene in Chinese patients with congenital heart disease.

Sun L et al.

Genetic Testing and Molecular Biomarkers, 2012

Genetic factors in non-syndromic congenital heart malformations.

Wessels MW et al.

Clinical Genetics, 2010

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

Mohapatra B et al.

Human Molecular Genetics, 2009

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.

Roessler E et al.

Molecular Genetics and Metabolism, 0

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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."