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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SGCE

Variant:p.S274*

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SGCE

NM_003919.3:p.S274*

hg38:chr7:94603294 G>T

Associated Papers

A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report.

de Leon MAJ et al.

Bmc Neurology, 2022

34986800 (PubMed )

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