Associated Papers
Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature.
Kerkhofs C et al.
Human Mutation, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
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
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