Varaico: Literature-Extracted Genetic Variants

Gene:DNAL1
Variant:p.M1insFs
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DNAL1

NM_031427.4:p.M1insFs

Associated Papers

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

Raidt J et al.

The European Respiratory Journal, 2024

Genetic basis of human left-right asymmetry disorders.

Deng H et al.

Expert Reviews in Molecular Medicine, 2015

Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.

Bush A et al.

Expert Review of Respiratory Medicine, 2012

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.

Leigh MW et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009

Genetic causes of bronchiectasis: primary ciliary dyskinesia.

Morillas HN et al.

Respiration; International Review of Thoracic Diseases, 2007

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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."