Varaico: Literature-Extracted Genetic Variants

Gene:RBL2
Variant:p.L533fs
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RBL2

NM_005611.4:p.L533fs

Associated Papers

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Aughey GN et al.

Brain : a Journal of Neurology, 2025

39692517 (PubMed )
Supplement: awae363_supplementary_data.zip › brain-2024-01175-File012.xlsx › Sheet1
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