Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

od Edvardson, Simon, Nicolae, Claudia M., Noh, Grace J., Burton, Jennifer E., Punzi, Giuseppe, Shaag, Avraham, Bischetsrieder, Jessica, De Grassi, Anna, Pierri, Ciro Leonardo, Elpeleg, Orly, Moldovan, George-Lucian
Wydane w Am J Hum Genet (2019)