Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.N386H
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SPAST

NM_014946.4:p.N386H

Associated Papers

A case of monozygotic twins with hereditary spastic paraplegia type 4 and epilepsy, of whom only one developed narcolepsy type 1.

Mizuno Y et al.

Journal of Sleep Research, 2024

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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."