Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A5
Variant:p.P429L
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SLC6A5

NM_004211.5:p.P429L

Associated Papers

Startle Disease: New Molecular Insights into an Old Neurological Disorder.

Schaefer N et al.

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2023

Neurobiology of glycine transporters: From molecules to behavior.

Marques BL et al.

Neuroscience and Biobehavioral Reviews, 2020

The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia.

Kitzenmaier A et al.

The European Journal of Neuroscience, 2019

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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."