Associated Papers
A Novel Intronic Mutation in MBD5 Results in Autosomal Dominant Intellectual Disability Type 1 due to Abnormal Splicing.
Jiang H et al.
Molecular Genetics & Genomic Medicine, 2025
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
Germline mosaicism in a family with MBD5 haploinsufficiency.
Bhatia M et al.
Cold Spring Harbor Molecular Case Studies, 2022
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