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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HS6ST2

Variant:p.P618L

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HS6ST2

NM_001394073.1:p.P618L

hg38:chrX:132628308 G>A

Associated Papers

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

Lipstein N et al.

The Journal of Clinical Investigation, 2017

28192369 (PubMed )

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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."