Varaico: Literature-Extracted Genetic Variants

Gene:DAW1
Variant:p.N143D
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DAW1

NM_178821.3:p.N143D

Associated Papers

Biallelic DAW1 variants reveal tissue-specific role in heterotaxy without primary ciliary dyskinesia.

Kulkarni S et al.

Research Square, 2026

Compound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesia.

Urbatsch D et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

Integrative in silico and biochemical analyses demonstrate direct Arl3-mediated ODA16 release from the intraflagellar transport machinery.

Wang J et al.

The Journal of Biological Chemistry, 2025

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.

Leslie JS et al.

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