Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.

Ann Clin Transl Neurol · 2020 · PMC7086002 · PMID 32105419

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might be significantno p-value reported

Interestingly, the younger brother (individual II:2) appears to be more severely affected (optic atrophy, seizures and thin corpus callosum only in individual II:2) indicating that intrafamilial (and interfamilial) variability might be significant.

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