Varaico: Literature-Extracted Genetic Variants

Gene:STXBP6
Variant:p.E105*
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STXBP6

NM_001394410.1:p.E105*

Associated Papers

Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.

Vetri L et al.

International Journal of Molecular Sciences, 2024

STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy.

Vinci M et al.

International Journal of Molecular Sciences, 2023

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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."