Associated Papers
Understanding Molecular Basis of PTPN11-Related Diseases.
Um S et al.
Arxiv, 2025
41479460 (PubMed )
Supplement: NIHPP2511.11860v1-supplement-1.pdf
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
40595497 (PubMed )
Supplement: 41467_2025_60641_MOESM5_ESM.xlsx › ClinVar_annotated
Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Biorxiv : the Preprint Server for Biology, 2024
39091798 (PubMed )
Supplement: media-6.xlsx › ClinVar_annotated
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
Tartaglia M et al.
American Journal of Human Genetics, 2006
Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?
Kitsiou-Tzeli S et al.
Hormone Research, 2006
Genotype-phenotype correlations in Noonan syndrome.
Zenker M et al.
The Journal of Pediatrics, 2004
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