Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.P69fs
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NHLRC1

NM_198586.3:p.P69fs

Associated Papers

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

Singh S et al.

Journal of Medical Genetics, 2006

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."