Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.D195N
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NHLRC1

NM_198586.3:p.D195N

Associated Papers

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Kumarasinghe L et al.

Cells, 2021

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1

Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease.

Traoré M et al.

Neurogenetics, 2009

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

Singh S et al.

Journal of Medical Genetics, 2006

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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."