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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NIPA1

Variant:p.A226V

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NIPA1

NM_144599.5:p.A226V

hg38:chr15:22823926 C>T

Associated Papers

Genotype-phenotype correlation on 45 individuals with West syndrome.

Krey I et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2020

31791873 (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."