Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC1
Variant:p.P69S
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NHLRC1

NM_198586.3:p.P69S

Associated Papers

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Kumarasinghe L et al.

Cells, 2021

Progressive myoclonus epilepsy.

Girard JM et al.

Handbook of Clinical Neurology, 2013

Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.

Salar S et al.

Epilepsy Research, 2012

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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."