Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D2
Variant:p.L499R
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TBC1D2

NM_001267571.2:p.L499R

Associated Papers

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Schmitt M et al.

Molecular & Cellular Proteomics : Mcp, 2021

34673281 (PubMed )
Supplement: mmc3.xlsx › S1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1843.647
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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."