Varaico: Literature-Extracted Genetic Variants

Gene:SZT2
Variant:p.L2185L
Back to variants list

SZT2

NM_001365999.1:p.L2185L

Associated Papers

Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.

Zhang X et al.

Seizure, 2024

Usage of Genetic Panels in an Adult Epilepsy Clinic.

Li J et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2023

Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene.

Cattelani C et al.

International Journal of Molecular Sciences, 2022

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."