Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.E350fs
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NHLRC1

NM_198586.3:p.E350fs

Associated Papers

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

39273284 (PubMed )
Supplement: ijms-25-09335-s001.zip › ijms-3137350-supplementary.pdf

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Kumarasinghe L et al.

Cells, 2021

Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.

Hočevar K et al.

Frontiers in Pharmacology, 2019

30930780 (PubMed )
Supplement: Table_6.xlsx › Sheet1

Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin.

Kecmanović M et al.

Clinical Genetics, 2016

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

Singh S et al.

Journal of Medical Genetics, 2006

Lafora disease due to EPM2B mutations: a clinical and genetic study.

Gómez-Abad C et al.

Neurology, 2005

Mutations in NHLRC1 cause progressive myoclonus epilepsy.

Chan EM et al.

Nature Genetics, 2003

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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."