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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP11A

Variant:p.G1000R

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ATP11A

NM_015205.3:p.G1000R

hg38:chr13:112871741 G>A

Associated Papers

Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.

Moya-Mendez ME et al.

Epilepsy & Behavior : E&b, 2021

33493807 (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."