Varaico: Literature-Extracted Genetic Variants

Gene:DRC2
Variant:p.M1insFs
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DRC2

NM_033124.5:p.M1insFs

Associated Papers

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.

Shoemark A et al.

The European Respiratory Journal, 2021

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

Fassad MR et al.

Journal of Medical Genetics, 2020

Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.

Litchfield K et al.

Nature Communications, 2016

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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."