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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPT1

Variant:p.G145R

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PPT1

NM_000310.4:p.G145R

hg38:chr1:40089513 C>G

Associated Papers

Sleep-related hypermotor epilepsy and peri-ictal hypotension in a patient with syntaxin-1B mutation.

Peres J et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2018

30378543 (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."