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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NHLRC1

Variant:p.G112_A113insFs

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NHLRC1

NM_198586.3:p.G112_A113insFs

hg38:chr6:18122270 C>CT

Associated Papers

Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes.

Ianzano L et al.

Human Mutation, 2005

16134145 (PubMed )

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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."