Varaico: Literature-Extracted Genetic Variants

Gene:SPAG1
Variant:p.M1insFs
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SPAG1

NM_003114.5:p.M1insFs

Associated Papers

Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.

Briggs L et al.

American Journal of Respiratory and Critical Care Medicine, 2025

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.

Fassad MR et al.

Journal of Medical Genetics, 2020

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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."