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Intellectual disability v8.222 EPM2A Arina Puzriakova Phenotypes for gene: EPM2A were changed from Epilepsy, progressive myoclonic 2A (Lafora) 254780 to Myoclonic epilepsy of Lafora 1, OMIM:254780
Intellectual disability v8.221 EPM2A Arina Puzriakova Added comment: Comment on publications: PMID: 39385815 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Intellectual disability v8.221 EPM2A Arina Puzriakova Publications for gene: EPM2A were set to 21376300
Intellectual disability v8.220 EPM2A Arina Puzriakova reviewed gene: EPM2A: Rating: ; Mode of pathogenicity: None; Publications: 39385815; Phenotypes: ; Mode of inheritance: None
Intellectual disability v3.878 EPM2A Sarah Leigh Source: Expert Review Amber was removed from gene: EPM2A
Intellectual disability EPM2A BRIDGE consortium edited their review of EPM2A
Intellectual disability EPM2A BRIDGE consortium edited their review of EPM2A
Intellectual disability EPM2A Louise Daugherty classified EPM2A as amber
Intellectual disability EPM2A Louise Daugherty commented on EPM2A
Intellectual disability EPM2A BRIDGE consortium reviewed EPM2A