Associated Papers
Novel KMT5B De Novo Variants Disrupt DNA Damage Response in Intellectual Disability.
Hu X et al.
Qjm : Monthly Journal of the Association of Physicians, 2025
Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review.
Politano D et al.
Genes, 2025
41153391 (PubMed )
Supplement: genes-16-01174-s001.zip › Supplementary_table_1.xlsx › Foglio1
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard SE et al.
Science Advances, 2023
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