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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49(10):1529-1538.
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PubMed
subject areas
Animals
Apoptosis
Carrier Proteins
Cell Movement
CRISPR-Cas Systems
Cytoskeleton
DNA Repair
Endoplasmic Reticulum Stress
Gene Knockout Techniques
Hernia, Hiatal
Humans
Intracellular Signaling Peptides and Proteins
Metalloendopeptidases
Mice
Microcephaly
Models, Molecular
Multiprotein Complexes
Mutation
Nephrosis
Nephrotic Syndrome
Podocytes
Protein Conformation
RNA Processing, Post-Transcriptional
RNA, Transfer
Telomere Homeostasis
Zebrafish
Zebrafish Proteins
authors with profiles
Patrick Gaffney