Varaico: Literature-Extracted Genetic Variants

Gene:UNC13A
Variant:p.P956L
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UNC13A

NM_001080421.3:p.P956L

Associated Papers

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Asadollahi R et al.

Nature Genetics, 2025

Mechanisms that regulate the C1-C2B mutual inhibition control functional switch of UNC-13.

Liu H et al.

Elife, 2025

Mechanisms that regulate the C1-C2B mutual inhibition controls functional switch of UNC-13.

Liu H et al.

Biorxiv : the Preprint Server for Biology, 2025

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.

Lipstein N et al.

The Journal of Clinical Investigation, 2017

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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."