Associated Papers
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.
Cordova I et al.
Genes, 2024
38674358 (PubMed )
Supplement: genes-15-00423-s001.zip › genes-2896901-supplementary.xlsx › SupplementalTable1
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder.
Shen W et al.
European Journal of Medical Genetics, 2019
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