Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.P111insFs
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NHLRC1

NM_198586.3:p.P111insFs

Associated Papers

Axonal polyneuropathy in Lafora disease with a newly identified EPM2A mutation: a case report and review of literature.

Razmeh S et al.

Journal of Neurology, 2025

Compound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease.

Tang X et al.

Clinical Neurology and Neurosurgery, 2022

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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."