Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).
Qiu W et al.
Bmc Structural Biology, 2014
Structural mechanism associated with domain opening in gain-of-function mutations in SHP2 phosphatase.
Darian E et al.
Proteins, 2011
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
Thiel C et al.
American Journal of Medical Genetics. Part A, 2009
Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2.
Bocchinfuso G et al.
Proteins, 2007
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