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Allelic phenotype prediction of phenylketonuria based on the machine learning method
BACKGROUND: Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Our study aimed to predict the phenotype using the allelic genotype. METHODS: A total of 1291 PKU patients with 623 various variants were used as the training dataset for predicting allelic phenotyp...
Autores principales: | Fang, Yang, Gao, Jinshuang, Guo, Yaqing, Li, Xiaole, Yuan, Enwu, Yuan, Erfeng, Song, Liying, Shi, Qianqian, Yu, Haiyang, Zhao, Dehua, Zhang, Linlin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064562/ https://www.ncbi.nlm.nih.gov/pubmed/37004080 http://dx.doi.org/10.1186/s40246-023-00481-9 |
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