Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
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Braun DA, et al. Among authors: prytula a.
Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.
Nat Genet. 2017.
PMID: 28805828
Free PMC article.
