Varaico: Literature-Extracted Genetic Variants

Gene:TOM1L1
Variant:p.G4delFs
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TOM1L1

NM_005486.3:p.G4delFs

Associated Papers

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.

Kanemasa H et al.

Bmc Neurology, 2016

27634470 (PubMed )
Supplement: 12883_2016_680_MOESM1_ESM.pdf
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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."