Varaico: Literature-Extracted Genetic Variants

Gene:SPRED1
Variant:p.E73*
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SPRED1

NM_152594.3:p.E73*

Associated Papers

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_2.xlsx › Cosmic_Annotated_Mutations

A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease.

Kamat MA et al.

Human Mutation, 2016

Review and update of SPRED1 mutations causing Legius syndrome.

Brems H et al.

Human Mutation, 2012

Identification of five novel SPRED1 germline mutations in Legius syndrome.

Laycock-van Spyk S et al.

Clinical Genetics, 2011

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

Spurlock G et al.

Journal of Medical Genetics, 2009

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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."