Varaico: Literature-Extracted Genetic Variants

Gene:SPTAN1
Variant:p.D2303_G2306del0
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SPTAN1

NM_001130438.3:p.D2303_G2306del0

Associated Papers

SPTAN1-Results of a Caregiver Survey.

Wilson M et al.

Journal of Child and Adolescent Psychopharmacology, 2025

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

Spataro N et al.

Genes, 2023

36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1

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."