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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SGCE

Variant:p.P214S

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SGCE

NM_003919.3:p.P214S

hg38:chr7:94618780 G>A

Associated Papers

Myoclonus dystonia syndrome: a novel ε-sarcoglycan gene mutation with variable clinical symptoms.

Akbari MT et al.

Gene, 2014

25034659 (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."