Varaico: Literature-Extracted Genetic Variants

Gene:DAW1
Variant:p.L66*
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DAW1

NM_178821.3:p.L66*

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

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

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Jin SC et al.

Nature Genetics, 2017

28991257 (PubMed )
Supplement: NIHMS906719-supplement-1.pdf
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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."