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SAV-Pred: A Freely Available Web Application for the Prediction of Pathogenic Amino Acid Substitutions for Monogenic Hereditary Diseases Studied in Newborn Screening

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES(2023)

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关键词
bioinformatics,human genetic variation,single amino acid variant (SAV),variant effect prediction,newborn screening,SAR,structure–property relationships
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