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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GOSR2

Variant:p.P3T

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GOSR2

NM_004287.5:p.P3T

hg38:chr17:46923199 C>A

Associated Papers

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

Boissé Lomax L et al.

Brain : a Journal of Neurology, 2013

23449775 (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."