Varaico: Literature-Extracted Genetic Variants

Gene:RBL2
Variant:p.L310fs
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RBL2

NM_005611.4:p.L310fs

Associated Papers

MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Ikegami M et al.

Communications Biology, 2021

34912045 (PubMed )
Supplement: 42003_2021_2930_MOESM4_ESM.xlsx › Target_sequencing_clinical

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

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.

Behjati S et al.

Nature Communications, 2017

28643781 (PubMed )
Supplement: ncomms15936-s5.xlsx › Driver_list
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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."