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Updated: May 5, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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四名心肌病患者患有异合体的DSG2 p.Arg119Ter变体

Takuya Sumida1, Shou Ogawa2, Shuichiro Higo3

  • 1Faculty of Medicine, Osaka University, Suita, Osaka, 565-0871, Japan.

Human genome variation
|December 20, 2024
PubMed
概括

与心律失常心肌病相关的异合体DSG2 p.Arg119Ter变体在心力衰竭患者中更为常见. 这种desmoglein-2变体损害了desmosome功能,可能会恶化心肌收缩性和疾病进展.

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