Associated Papers
A novel missense variant in HIKESHI: Clinical phenotype, in vitro functional testing, and potential for gene therapy.
Mallack EJ et al.
American Journal of Medical Genetics. Part A, 2024
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
Helman G et al.
Pediatric Neurology, 2021
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