Varaico: Literature-Extracted Genetic Variants

Gene:SPTAN1
Variant:p.L2305del1
Back to variants list

SPTAN1

NM_001130438.3:p.L2305del1

Associated Papers

Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.

Alsubhi S et al.

Journal of Neurology, 2024

SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia.

Xie F et al.

Journal of Human Genetics, 2022

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

Syrbe S et al.

Brain : a Journal of Neurology, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."