Associated Papers
NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?
Sandestig A et al.
Molecular Syndromology, 2020
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Yates CL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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