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Publications by Giuseppe Punzi
Heterozygous RNF13 Gain-Of-Function Variants Are Associated With Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
American Journal of Human Genetics
Genetics
Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
American Journal of Human Genetics
Genetics
