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Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes

Erica Sanford Kobayashi,Nava Shaul Lotan,Yael Dinur Schejter,Christine Makowski,Verena Kraus,Nanda Ramchandar,Vardiella Meiner,Isabelle Thiffault,Emily Farrow,Julie Cakici,Stephen Kingsmore,Matias Wagner,Nikolaus Rieber,Matthew Bainbridge

The Journal of Pediatrics（2024）

引用 2|浏览6
关键词
genome sequencing,exome sequencing,immunodeficiency,inborn error of immunity,SUMOylation,deSUMOylation
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