Varaico: Literature-Extracted Genetic Variants

Gene:SPRED1
Variant:p.G30R
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SPRED1

NM_152594.3:p.G30R

Associated Papers

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.

Hirata Y et al.

The Journal of Biological Chemistry, 2016

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

Brems H et al.

The Keio Journal of Medicine, 2013

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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."