Associated Papers
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
Warburg-Cinotti disease variant p.Tyr740Cys enhances catalytic activity of DDR2 kinase.
Hao Z et al.
Plos One, 2025
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.
Ahn JH et al.
Npj Genomic Medicine, 2024
39609445 (PubMed )
Supplement: 41525_2024_449_MOESM3_ESM.xlsx › Table_S2
Progressive conjunctival invasion of cornea in a child with Warburg-Cinotti Syndrome: a case report.
Ben H et al.
Bmc Ophthalmology, 2024
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features.
Yilmaz Gulec E et al.
Molecular Syndromology, 2022
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Xu L et al.
American Journal of Human Genetics, 2018
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