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| Rare anaemia v3.10 | FUT2 | Arina Puzriakova Added comment: Comment on publications: PMID: 39350204 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.10 | FUT2 | Arina Puzriakova Publications for gene: FUT2 were set to 39350204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v3.9 | FUT2 |
Arina Puzriakova gene: FUT2 was added gene: FUT2 was added to Rare anaemia. Sources: Literature Mode of inheritance for gene: FUT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUT2 were set to 39350204 Phenotypes for gene: FUT2 were set to Developmental and epileptic encephalopathy Added comment: PMID: 39350204 (2024) - homozygous missense variant (NC_000019.10:g.48703291C>T) in the FUT2 gene was identified in an infant with vitamin B12-responsive developmental and epileptic encephalopathy and megaloblastic anemia. Although the mechanism of how the FUT2 gene variant affects vitamin B12 absorption is unclear. Additional evidence is required before conclusively implicating FUT2 in human disease and therefore rating Red for now. Sources: Literature |
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