Varaico: Literature-Extracted Genetic Variants

Gene:DNAL1
Variant:p.K8fs
Back to variants list

DNAL1

NM_031427.4:p.K8fs

Associated Papers

Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.

Kondratyeva EI et al.

International Journal of Molecular Sciences, 2025

41373829 (PubMed )
Supplement: ijms-26-11674-s001.zip › ijms-4008327-supplementary.pdf

Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.

Zlotina A et al.

Orphanet Journal of Rare Diseases, 2024

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."