Varaico: Literature-Extracted Genetic Variants

Gene:STX1A
Variant:p.F29_D31del3
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STX1A

NM_004603.4:p.F29_D31del3

Associated Papers

De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A.

Banne E et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2020

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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."