Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.G464R
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PTPN11

NM_002834.5:p.G464R

Associated Papers

Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.

Bertola DR et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

Lee BH et al.

The Journal of Pediatrics, 2011

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

Tartaglia M et al.

Annals of the New York Academy of Sciences, 2010

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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."