Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.A277insFs
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NHLRC1

NM_198586.3:p.A277insFs

Associated Papers

Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.

Orsini A et al.

Journal of Neurology, 2022

Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.

Riva A et al.

Journal of the Neurological Sciences, 2021

Mild Lafora disease: clinical, neurophysiologic, and genetic findings.

Ferlazzo E et al.

Epilepsia, 2014

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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."