Varaico: Literature-Extracted Genetic Variants

Gene:SYT1
Variant:p.K367_I368ins0
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SYT1

NM_005639.3:p.K367_I368ins0

Associated Papers

Expanding the genetic and phenotypic spectrum of Baker-Gordon syndrome: a new de novo SYT1 variant.

Cotrina-Vinagre FJ et al.

Journal of Genetics, 2024

Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review.

Cesaroni CA et al.

Molecular Syndromology, 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."