Associated Papers
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
Long-term outcome in inherited nephrogenic diabetes insipidus.
Sharma S et al.
Clinical Kidney Journal, 2019
Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.
Kamsteeg EJ et al.
Human Mutation, 2009
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