The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.

IF 3.3 Q2 GENETICS & HEREDITY

HGG Advances Pub Date : 2024-04-01 DOI:10.1016/j.xhgg.2024.100288

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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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。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

HGG Advances Biochemistry, Genetics and Molecular Biology-Molecular Medicine

CiteScore

4.30

自引率

4.50%

发文量

审稿时长

14 weeks