Varaico: Literature-Extracted Genetic Variants

Gene:SPRED1
Variant:p.E4E
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SPRED1

NM_152594.3:p.E4E

Associated Papers

The genetic evolution of acral melanoma.

Wang M et al.

Biorxiv : the Preprint Server for Biology, 2023

Pathogenetics of the RASopathies.

Tidyman WE et al.

Human Molecular Genetics, 2016

The RASopathies.

Rauen KA

Annual Review of Genomics and Human Genetics, 2013

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

Tidyman WE et al.

Current Opinion in Genetics & Development, 2009

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.

Tidyman WE et al.

Expert Reviews in Molecular Medicine, 2008

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y et al.

Human Mutation, 2008

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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."