Varaico: Literature-Extracted Genetic Variants

Gene:ODAD1
Variant:p.S469fs
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ODAD1

NM_001364171.2:p.S469fs

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

38028630 (PubMed )
Supplement: DataSheet1.pdf

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

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.

Antony D et al.

Frontiers in Genetics, 2022

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