Varaico: Literature-Extracted Genetic Variants

Gene:ODAD1
Variant:p.E200fs
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ODAD1

NM_144577.4:p.E200fs

Associated Papers

ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects.

Zhou N et al.

Frontiers in Genetics, 2023

Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.

Ostrowski LE et al.

International Journal of Molecular Sciences, 2022

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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."