Associated Papers
The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar.
Park KJ et al.
Laboratory Medicine, 2021
Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.
Mittempergher L et al.
Plos One, 2020
32639993 (PubMed )
Supplement: pone.0235766.s008.xlsx › Table_S2B__all_genes_
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
Vissers LE et al.
European Journal of Human Genetics : Ejhg, 2015
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
Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.
Anastasaki C et al.
Human Molecular Genetics, 2009
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
Dentici ML et al.
European Journal of Human Genetics : Ejhg, 2009
Crystal structures of MEK1 binary and ternary complexes with nucleotides and inhibitors.
Fischmann TO et al.
Biochemistry, 2009
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P et al.
Methods in Enzymology, 2008
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