Varaico: Literature-Extracted Genetic Variants

Gene:DNAH11
Variant:p.R4395*
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DNAH11

NM_001277115.2:p.R4395*

Associated Papers

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

Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis.

Zhang X et al.

Frontiers in Pharmacology, 2025

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.

Jiang Y et al.

Nature Communications, 2022

36418292 (PubMed )
Supplement: 41467_2022_34689_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_5.xlsx › Sheet1

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.

Wheway G et al.

Bmc Medical Genomics, 2021

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.

Xia H et al.

Plos One, 2021

A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling.

Namavarian A et al.

Molecular Genetics & Genomic Medicine, 2020

A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies.

Liu Z et al.

Science Translational Medicine, 2020

32188719 (PubMed )
Supplement: aay0071_data_file_s1.xlsx › PCD

Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients.

Zhu D et al.

Bioscience Reports, 2019

DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome.

Liu S et al.

Scientific Reports, 2019

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

Boaretto F et al.

The Journal of Molecular Diagnostics : Jmd, 2016

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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."