Associated Papers
A second RUBCN variant associated with epileptic encephalopathy and neurodevelopmental delay.
Magalie LP et al.
American Journal of Medical Genetics. Part A, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
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