Associated Papers
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.
Vahidnezhad H et al.
Scientific Reports, 2020
Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP.
Boente Mdel C et al.
The British Journal of Dermatology, 2016
Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.
Polivka L et al.
Journal of Medical Genetics, 2016
Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation.
Erken H et al.
The British Journal of Dermatology, 2011
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