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Human Genetics|March 7, 2025
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase AShantanu Jain, Marena Trinidad, Thanh Binh Nguyen, et al.
Biorxiv : the Preprint Server for Biology|May 27, 2024
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase AShantanu Jain, Marena Trinidad, Thanh Binh Nguyen, et al.
Genetics|October 6, 2025
Mondo: Integrating Disease Terminology Across CommunitiesNicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, et al.
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