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
Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature.
Kerkhofs C et al.
Human Mutation, 2020
Uncovering the assembly pathway of human ribosomes and its emerging links to disease.
Bohnsack KE et al.
The Embo Journal, 2019
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.
Bolze A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
Bolze A et al.
Science (new York, N.y.), 2013
Select a paper to view details