Associated Papers
RNF13 variants L311S and L312P associated with developmental epileptic encephalopathy alter dendritic organization in hippocampal neurons.
Cabana VC et al.
Ibro Neuroscience Reports, 2025
Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive.
Taylor A et al.
American Journal of Medical Genetics. Part A, 2023
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