Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
Hosoe J et al.
Diabetes, 2017
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.
Ardon O et al.
Molecular Genetics and Metabolism Reports, 2014
Genotype-phenotype correlation in inherited severe insulin resistance.
Longo N et al.
Human Molecular Genetics, 2002
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