Varaico: Literature-Extracted Genetic Variants

Gene:ODAD3
Variant:p.S419*
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ODAD3

NM_145045.5:p.S419*

Associated Papers

Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia.

Wang R et al.

Frontiers in Genetics, 2021

33719352 (PubMed )
Supplement: Table_2.xlsx › Table_S2

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.

Deng S et al.

Bioscience Reports, 2020

Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus.

Zhang W et al.

Journal of Human Genetics, 2019

Genetic basis of human left-right asymmetry disorders.

Deng H et al.

Expert Reviews in Molecular Medicine, 2015

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

Hjeij R et al.

American Journal of Human Genetics, 2014

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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."