Varaico: Literature-Extracted Genetic Variants

Gene:RBL2
Variant:p.K901_V902Splc
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RBL2

NM_005611.4:p.K901_V902Splc

Associated Papers

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

Aughey GN et al.

Brain : a Journal of Neurology, 2025

Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.

Aughey G et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."