Varaico: Literature-Extracted Genetic Variants

Gene:RBL2
Variant:p.Y306*
Back to variants list

RBL2

NM_005611.4:p.Y306*

Associated Papers

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

Brunet T et al.

Annals of Clinical and Translational Neurology, 2020

32105419 (PubMed )
Supplement: ACN3-7-390-s001.docx
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."