Varaico: Literature-Extracted Genetic Variants

Gene:SPTAN1
Variant:p.V2123fs
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SPTAN1

NM_001130438.3:p.V2123fs

Associated Papers

Spectrins: molecular organizers and targets of neurological disorders.

Lorenzo DN et al.

Nature Reviews. Neuroscience, 2023

De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder.

Ylikallio E et al.

Brain : a Journal of Neurology, 2020

Reply: De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder.

Van de Vondel L et al.

Brain : a Journal of Neurology, 2020

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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."