Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.G331delFs
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NHLRC1

NM_198586.3:p.G331delFs

Associated Papers

Clinical course and management challenges in Lafora disease: a narrative analysis in an Apulian cohort.

d'Orsi G et al.

Orphanet Journal of Rare Diseases, 2025

Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.

Pondrelli F et al.

Orphanet Journal of Rare Diseases, 2023

37658439 (PubMed )
Supplement: 13023_2023_2880_MOESM2_ESM.xlsx › STAB2_NHLRC1

Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease.

d'Orsi G et al.

Frontiers in Neurology, 2023

Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.

Riva A et al.

Journal of the Neurological Sciences, 2021

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

Kecmanović M et al.

Clinical Genetics, 2016

Mild Lafora disease: clinical, neurophysiologic, and genetic findings.

Ferlazzo E et al.

Epilepsia, 2014

Vagus nerve stimulation in Lafora body disease.

Hajnsek S et al.

Epilepsy & Behavior Case Reports, 2013

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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."