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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Article de revue   Avec comité de lecture

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A

Shantanu Jain, Marena Trinidad, Thanh Binh Nguyen, Kaiya Jones, Santiago Diaz Neto, Fang Ge, Ailin Glagovsky, Cameron Jones, Giankaleb Moran, Boqi Wang, …
Human genetics, Vol.144(2-3), pp.295-308
03/2025
PMID: 40055237

Résumé

Cerebroside-Sulfatase - chemistry Cerebroside-Sulfatase - genetics Cerebroside-Sulfatase - metabolism Genetic Variation Humans Machine Learning Mutation, Missense

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