Varaico: Literature-Extracted Genetic Variants

Gene:DNAH11
Variant:p.R1436W
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DNAH11

NM_001277115.2:p.R1436W

Associated Papers

Identification of Poor Prognostic Markers in Triple-Negative Breast Cancer Using Whole Exome Sequencing.

Lee S et al.

Journal of Breast Cancer, 2025

41311331 (PubMed )
Supplement: jbc-28-406-s001.xls › jbc-28-406-s001

Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing.

Tu LT et al.

Diagnostics (basel, Switzerland), 2025

Genetic aspects of congenital heart disease in heterotaxy syndrome.

Ahmad Rafie NN et al.

Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2025

Analysis of the diagnosis of Japanese patients with primary ciliary dyskinesia using a conditional reprogramming culture.

Kurokawa A et al.

Respiratory Investigation, 2022

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.

Xia H et al.

Plos One, 2021

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.

Takenouchi T et al.

American Journal of Medical Genetics. Part A, 2017

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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."