Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.K461_R464delFs
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STXBP1

NM_001032221.6:p.K461_R464delFs

Associated Papers

Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.

Duan J et al.

Brain : a Journal of Neurology, 2022

35231114 (PubMed )
Supplement: awac053_supplementary_data.zip › brain-2021-02368-File005.pdf

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

Abramov D et al.

Journal of Neurochemistry, 2021

32643187 (PubMed )
Supplement: supplement_1.pdf

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

Kodera H et al.

Epilepsia, 2013

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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."