Heterozygous RNF13 Gain-Of-Function Variants Are Associated With Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
American Journal of Human Genetics - United States
doi 10.1016/j.ajhg.2018.11.018
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January 1, 2019
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Elsevier BV