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机译:集成变体解释方法预测酶活性并在Cagi4 Naglu Naglu(人N-乙酰氨基葡萄糖苷酶)和UBE2I UBE2I(人SUMO-LIGAPE)挑战中分配致病性
Institute for Bioscience and Biotechnology ResearchUniversity of MarylandRockville Maryland;
Institute for Bioscience and Biotechnology ResearchUniversity of MarylandRockville Maryland;
Institute for Bioscience and Biotechnology ResearchUniversity of MarylandRockville Maryland;
Institute for Bioscience and Biotechnology ResearchUniversity of MarylandRockville Maryland;
CAGI; ensemble methods; missense mutations; monogenic disease; NAGLU; SUMO‐ligase;
机译:集成变体解释方法预测酶活性并在Cagi4 Naglu Naglu(人N-乙酰氨基葡萄糖苷酶)和UBE2I UBE2I(人SUMO-LIGAPE)挑战中分配致病性
机译:整合变体解释方法以预测CAGI4 NAGLU(人类N-乙酰氨基葡萄糖苷酶)和UBE2I(人类SUMO-连接酶)挑战中的酶活性并确定致病性
机译:用于预测酶活性并在CAG3 Naglu(人N-乙酰氨基葡萄糖苷酶)和UBE2I(人SUMO-LIGA酶)挑战中分配致病性的集合变体解释方法