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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP1A3

Variant:p.K595_S598del0

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ATP1A3

NM_152296.5:p.K595_S598del0

hg38:chr19:41978164 CTGCGACACT>C

Associated Papers

Epilepsy with eyelid myoclonia in the setting of de novo pathogenic variant in ATP1A3.

Parfyonov M et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2023

37293976 (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."