Varaico: Literature-Extracted Genetic Variants

Gene:NELFE
Variant:p.V366L
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NELFE

NM_002904.6:p.V366L

Associated Papers

ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis.

Yu L et al.

Frontiers in Aging Neuroscience, 2022

35978945 (PubMed )
Supplement: Table_1.XLSX › Sheet3

Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.

Haq IU et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2019

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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."