Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.V221fs
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NHLRC1

NM_198586.3:p.V221fs

Associated Papers

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Kumarasinghe L et al.

Cells, 2021

Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.

Casciato S et al.

The International Journal of Neuroscience, 2017

Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.

Singh S et al.

Journal of Medical Genetics, 2006

Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.

Gentry MS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2005

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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."