Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.I289insFs
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STXBP1

NM_001032221.6:p.I289insFs

Associated Papers

Assessing the landscape of STXBP1-related disorders in 534 individuals.

Xian J et al.

Brain : a Journal of Neurology, 2022

35190816 (PubMed )
Supplement: awab327_supplementary_data.zip › brain-2021-00642-File011.xlsx › Table_S1_Genotype_Data

STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.

Abramov D et al.

Journal of Neurochemistry, 2021

32643187 (PubMed )
Supplement: supplement_1.pdf

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Ganesan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

Balciuniene J et al.

Jama Network Open, 2019

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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."