Varaico: Literature-Extracted Genetic Variants

Gene:SPTAN1
Variant:p.Q2304_G2306del0
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SPTAN1

NM_001130438.3:p.Q2304_G2306del0

Associated Papers

Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.

Marco Hernández AV et al.

American Journal of Medical Genetics. Part A, 2022

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

Syrbe S et al.

Brain : a Journal of Neurology, 2017

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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."