Varaico: Literature-Extracted Genetic Variants

Gene:MAP3K8
Variant:p.L128V
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MAP3K8

NM_005204.4:p.L128V

Associated Papers

Integrated in silico MS-based phosphoproteomics and network enrichment analysis of RASopathy proteins.

Montero-Bullón JF et al.

Orphanet Journal of Rare Diseases, 2021

34229750 (PubMed )
Supplement: 13023_2021_1934_MOESM4_ESM.xlsx › Dysregulated_phosphoproteins

Pathogenetics of the RASopathies.

Tidyman WE et al.

Human Molecular Genetics, 2016

Expansion of the RASopathies.

Tidyman WE et al.

Current Genetic Medicine Reports, 2016

Next-generation sequencing identifies rare variants associated with Noonan syndrome.

Chen PC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

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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."