Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.R559Q
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CBL

NM_005188.4:p.R559Q

Associated Papers

Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Avramović V et al.

Human Genomics, 2021

34906245 (PubMed )
Supplement: 40246_2021_371_MOESM1_ESM.xlsx › S5

MAX inactivation is an early event in GIST development that regulates p16 and cell proliferation.

Schaefer IM et al.

Nature Communications, 2017

28270683 (PubMed )
Supplement: ncomms14674-s2.xlsx › Sheet1

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C et al.

Molecular Systems Biology, 2014

24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies
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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."