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Cerebral Palsy v1.348 | KDM3B |
Clare van Eyk gene: KDM3B was added gene: KDM3B was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDM3B were set to PMID: 38553553 Phenotypes for gene: KDM3B were set to Diets-Jongmans syndrome, MIM#618846 Review for gene: KDM3B was set to RED Added comment: Single individual with de novo likely pathogenic variant described in WGS study of clinically confirmed CP (PMID: 38553553). Sources: Literature |