Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.H187P
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NHLRC1

NM_198586.3:p.H187P

Associated Papers

Advancing neurogenetics in Africa: past achievements, current developments and shaping the future.

Landouré G et al.

Nature Reviews. Neurology, 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

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Kumarasinghe L et al.

Cells, 2021

Early Parkinsonism in a Senegalese girl with Lafora disease.

Ragona F et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2020

Neurogenomics in Africa: Perspectives, progress, possibilities and priorities.

Akinyemi RO et al.

Journal of the Neurological Sciences, 2016

Genetics and genomic medicine in Mali: challenges and future perspectives.

Landouré G et al.

Molecular Genetics & Genomic Medicine, 2016

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

Traoré M et al.

Neurogenetics, 2009

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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."