Associated Papers
Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.
Hu B et al.
Frontiers in Oncology, 2021
34434896 (PubMed )
Supplement: DataSheet_2.xlsx › S3
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.
Lhussiez V et al.
Investigative Ophthalmology & Visual Science, 2020
32915983 (PubMed )
Supplement: iovs-61-11-18_s001.pdf
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
Tsangaris E et al.
Journal of Medical Genetics, 2011
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Seifert W et al.
Human Mutation, 2009
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
Seifert W et al.
Journal of Medical Genetics, 2006
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.
Hennies HC et al.
American Journal of Human Genetics, 2004
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