Varaico: Literature-Extracted Genetic Variants

Gene:SLC32A1
Variant:p.L269P
Back to variants list

SLC32A1

NM_080552.3:p.L269P

Associated Papers

De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.

Platzer K et al.

Annals of Neurology, 2022

The neuroligins and the synaptic pathway in Autism Spectrum Disorder.

Trobiani L et al.

Neuroscience and Biobehavioral Reviews, 2020

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."