Associated Papers
Disease-specific variant pathogenicity prediction using multimodal biomedical language models.
Liu Y et al.
Biorxiv : the Preprint Server for Biology, 2025
Rapid screening of UPB1 gene variations by high resolution melting curve analysis.
Xu X et al.
Experimental and Therapeutic Medicine, 2021
In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.
Hishinuma E et al.
Journal of Clinical Medicine, 2020
Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency.
Fang Y et al.
Medicine, 2019
[Identification of a novel mutation of UPB1 gene in a Chinese family affected with beta-ureidopropinoase deficiency].
Shu J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
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