The Journal of Pediatrics
 2024
DOI: 10.1016/j.jpeds.2024.114180
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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
et al.
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