Publications:

SYT1-Associated Neurodevelopmental Disorder: A Narrative Review.

Children (Basel, Switzerland)

Riggs, Edith E; Shakkour, Zaynab Z; Anderson, Christopher L CL; Carney, Paul R PR

Publication Date: 2022-09-22

Variant appearance in text: NSF: I367T

PubMed Link: 36291375

Variant Present in the following documents:

• Main text
• children-09-01439.pdf

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Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

The Journal Of Clinical Investigation

Baker, Kate K; Gordon, Sarah L SL; Grozeva, Detelina D; van Kogelenberg, Margriet M; Roberts, Nicola Y NY; Pike, Michael M; Blair, Edward E; Hurles, Matthew E ME; Chong, W Kling WK; Baldeweg, Torsten T; Kurian, Manju A MA; Boyd, Stewart G SG; Cousin, Michael A MA; Raymond, F Lucy FL

Publication Date: 2015-04

Variant appearance in text: NSF: I367T

PubMed Link: 25705886

Variant Present in the following documents:

• Main text

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