Varaico: Literature-Extracted Genetic Variants

Gene:DNAH11
Variant:p.S1142Splc
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DNAH11

NM_001277115.2:p.S1142Splc

Associated Papers

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center.

Xue H et al.

Scientific Reports, 2024

Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China.

Li Y et al.

Bmc Pediatrics, 2022

Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.

Chau JFT et al.

Frontiers in Genetics, 2022

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.

Xia H et al.

Plos One, 2021

Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.

Fu F et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2018

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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."