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| Likely inborn error of metabolism v7.19 | NDUFA3 | Arina Puzriakova Added comment: Comment on publications: PMID:39661167 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.19 | NDUFA3 | Arina Puzriakova Publications for gene: NDUFA3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.18 | NDUFA3 | Arina Puzriakova Phenotypes for gene: NDUFA3 were changed from No OMIM phenotype; Isolated complex I deficiency to Leigh syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.17 | NDUFA3 | Arina Puzriakova Mode of inheritance for gene: NDUFA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.16 | NDUFA3 | Arina Puzriakova reviewed gene: NDUFA3: Rating: ; Mode of pathogenicity: None; Publications: 39661167; Phenotypes: Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | NDUFA3 |
Ellen McDonagh gene: NDUFA3 was added gene: NDUFA3 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA3 was set to Unknown Phenotypes for gene: NDUFA3 were set to No OMIM phenotype; Isolated complex I deficiency |
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