Associated Papers
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
A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia.
Martins M et al.
International Journal of Molecular Sciences, 2023
37628781 (PubMed )
Supplement: ijms-24-12603-s001.zip › ijms-2533004-supplementary.pdf
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).
Mullegama SV et al.
European Journal of Human Genetics : Ejhg, 2016
Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
Bonnet C et al.
European Journal of Human Genetics : Ejhg, 2013
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