Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.G434R
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PTPN11

NM_002834.5:p.G434R

Associated Papers

In-Silico and In-Vitro Analysis of Human SOS1 Protein Causing Noonan Syndrome - A Novel Approach to Explore the Molecular Pathways.

Sigamani V et al.

Current Genomics, 2021

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

Lepri F et al.

Human Mutation, 2011

Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

Roberts AE et al.

Nature Genetics, 2007

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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."