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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SGCE

Variant:p.D155N

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SGCE

NM_003919.3:p.D155N

hg38:chr7:94623325 C>T

Associated Papers

A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome.

Hartmann CJ et al.

Journal of Neurology, 2011

21267590 (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."