Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.G221V
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SGCE

NM_003919.3:p.G221V

Associated Papers

Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.

Azuma K et al.

Clinical Genetics, 2023

Detection of a new deleterious SGCE gene variant in Moroccan family with inherited myoclonus-dystonia.

Chbel F et al.

Clinical Case Reports, 2022

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