Associated Papers
Expanding the Phenotypic Spectrum of HNRNPU-Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.
Hodgson AKO et al.
American Journal of Medical Genetics. Part A, 2025
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
Leduc MS et al.
American Journal of Medical Genetics. Part A, 2017
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