Varaico: Literature-Extracted Genetic Variants

Gene:ODAD2
Variant:p.E557*
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ODAD2

NM_018076.5:p.E557*

Associated Papers

Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.

Baz-Redón N et al.

Archivos De Bronconeumologia, 2021

FREQMAX provides an alternative approach for determining high-resolution allele frequency thresholds in carrier screening.

Subaran RL et al.

Human Mutation, 2020

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

Hjeij R et al.

American Journal of Human Genetics, 2013

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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."