Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

Irena Muffels(Utrecht University), Peter M. van Hasselt(Utrecht University)

The American Journal of Human Genetics

January 1, 2023

10.1016/j.ajhg.2022.12.003

Cited by 6

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