MUSK 致病变体的严重程度可通过其破坏的蛋白质结构域来预测。

IF 3.3 Q2 GENETICS & HEREDITY
Benjamin T. Cocanougher, Samuel W. Liu, Ludmila Francescatto, Alexander Behura, Mariele Anneling, David G. Jackson, Kristen L. Deak, Chi D. Hornik, Mai K. ElMallah, Carolyn E Pizoli, Edward C. Smith, Khoon Ghee Queenie Tan, Marie T. McDonald
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The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
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来源期刊
HGG Advances
HGG Advances Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
4.30
自引率
4.50%
发文量
69
审稿时长
14 weeks
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