Varaico: Literature-Extracted Genetic Variants

Gene:RBL2
Variant:p.L310fs
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RBL2

NM_005611.4:p.L310fs

Associated Papers

RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.

Samra N et al.

Journal of Human Genetics, 2021

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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."