Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.L261P
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NHLRC1

NM_198586.3:p.L261P

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

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Kumarasinghe L et al.

Cells, 2021

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.

Couarch P et al.

Journal of Molecular Medicine (berlin, Germany), 2011

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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."