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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NES

Variant:p.V516A

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NES

NM_006617.2:p.V516A

hg38:chr1:156672641 A>G

Associated Papers

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.

Spinelli E et al.

Annals of Neurology, 2021

34185323 (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."