Varaico: Literature-Extracted Genetic Variants

Gene:SYT1
Variant:p.P401L
Back to variants list

SYT1

NM_005639.3:p.P401L

Associated Papers

A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release.

van Boven MA et al.

Molecular Psychiatry, 2024

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."